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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA011851
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14095
ClinVar RCV Id:
RCV000015151
RCV000035772
RCV000158516
RCV000253053
RCV000462477
RCV001186219
RCV002496365
dbSNP Id:
rs121913630
ExAC:
14:23895023 G / A
gnomAD v2:
14-23895023-G-A
gnomAD v3:
14-23425814-G-A
gnomAD v4:
14-23425814-G-A
MyVariant Identifiers:
chr14:g.23895023G>A (hg19)
chr14:g.23425814G>A (hg38)
PubMed:
PMID:1430197
PMID:7731997
PMID:9829907
PMID:12117842
PMID:12707239
PMID:16199542
PMID:20359594
PMID:21835320
PMID:23074333
PMID:24510615
PMID:25239116
PMID:25351510
PMID:25935763
PMID:29300372
ERepo:
CA011851/MONDO:0005045/002
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23425814G>A , CM000676.2:g.23425814G>A
GRCh38
NC_000014.8:g.23895023G>A , CM000676.1:g.23895023G>A
GRCh37
NC_000014.7:g.22964863G>A
NCBI36
NG_007884.1:g.14848C>T , LRG_384:g.14848C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000355349.4:c.2167C>T
MANE Select
ENSP00000347507.3:p.Arg723Cys
ENST00000355349.3:c.2167C>T
ENSP00000347507.3:p.Arg723Cys
NM_000257.3:c.2167C>T
NP_000248.2:p.Arg723Cys
XR_245686.3:n.2273C>T
XM_017021340.1:c.2167C>T
XP_016876829.1:p.Arg723Cys
NM_000257.4:c.2167C>T
MANE Select
NP_000248.2:p.Arg723Cys
Search 100 bp 5'
Search 100 bp 3'