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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:
CA013144
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14093
ClinVar RCV Id:
RCV000015149
RCV000154208
RCV000770487
RCV001618212
dbSNP Id:
rs121913629
gnomAD v4:
14-23423984-C-T
MyVariant Identifiers:
chr14:g.23893193C>T (hg19)
chr14:g.23423984C>T (hg38)
ERepo:
CA013144/MONDO:0005045/002
PubMed:
PMID:1552912
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23423984C>T , CM000676.2:g.23423984C>T
GRCh38
NC_000014.8:g.23893193C>T , CM000676.1:g.23893193C>T
GRCh37
NC_000014.7:g.22963033C>T
NCBI36
NG_007884.1:g.16678G>A , LRG_384:g.16678G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000355349.4:c.2845G>A
MANE Select
ENSP00000347507.3:p.Glu949Lys
ENST00000355349.3:c.2845G>A
ENSP00000347507.3:p.Glu949Lys
NM_000257.3:c.2845G>A
NP_000248.2:p.Glu949Lys
XR_245686.3:n.2951G>A
XM_017021340.1:c.2845G>A
XP_016876829.1:p.Glu949Lys
NM_000257.4:c.2845G>A
MANE Select
NP_000248.2:p.Glu949Lys
Search 100 bp 5'
Search 100 bp 3'