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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:
CA012953
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14097
ClinVar RCV Id:
RCV001177579
dbSNP Id:
rs121913631
gnomAD v2:
14-23893316-G-C
gnomAD v3:
14-23424107-G-C
gnomAD v4:
14-23424107-G-C
MyVariant Identifiers:
chr14:g.23893316G>C (hg19)
chr14:g.23424107G>C (hg38)
PubMed:
PMID:1638703
PMID:7731997
PMID:8435239
PMID:8483915
PMID:8514894
PMID:11227787
PMID:12473556
PMID:12975413
PMID:15358028
PMID:15528230
PMID:15858117
PMID:18403758
PMID:21642240
PMID:23891399
PMID:24510615
PMID:25351510
PMID:26914223
PMID:27247418
PMID:27532257
PMID:28606303
PMID:29300372
ERepo:
CA012953/MONDO:0005045/002
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23424107G>C , CM000676.2:g.23424107G>C
GRCh38
NC_000014.8:g.23893316G>C , CM000676.1:g.23893316G>C
GRCh37
NC_000014.7:g.22963156G>C
NCBI36
NG_007884.1:g.16555C>G , LRG_384:g.16555C>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000355349.4:c.2722C>G
MANE Select
ENSP00000347507.3:p.Leu908Val
ENST00000355349.3:c.2722C>G
ENSP00000347507.3:p.Leu908Val
NM_000257.3:c.2722C>G
NP_000248.2:p.Leu908Val
XR_245686.3:n.2828C>G
XM_017021340.1:c.2722C>G
XP_016876829.1:p.Leu908Val
NM_000257.4:c.2722C>G
MANE Select
NP_000248.2:p.Leu908Val
Search 100 bp 5'
Search 100 bp 3'