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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:
CA013815
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
42965
ClinVar RCV Id:
RCV001449662
RCV003485529
dbSNP Id:
rs397516187
ExAC:
14:23889202 C / T
gnomAD v2:
14-23889202-C-T
gnomAD v4:
14-23419993-C-T
COSMIC:
COSM2031805
MyVariant Identifiers:
chr14:g.23889202C>T (hg19)
chr14:g.23419993C>T (hg38)
ERepo:
CA013815/MONDO:0005021/002
CA013815/MONDO:0005045/002
PubMed:
PMID:15769782
PMID:21310275
PMID:22464770
PMID:29300372
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23419993C>T , CM000676.2:g.23419993C>T
GRCh38
NC_000014.8:g.23889202C>T , CM000676.1:g.23889202C>T
GRCh37
NC_000014.7:g.22959042C>T
NCBI36
NG_007884.1:g.20669G>A , LRG_384:g.20669G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000355349.4:c.3578G>A
MANE Select
ENSP00000347507.3:p.Arg1193His
ENST00000355349.3:c.3578G>A
ENSP00000347507.3:p.Arg1193His
NM_000257.3:c.3578G>A
NP_000248.2:p.Arg1193His
XM_017021340.1:c.3578G>A
XP_016876829.1:p.Arg1193His
NM_000257.4:c.3578G>A
MANE Select
NP_000248.2:p.Arg1193His
Search 100 bp 5'
Search 100 bp 3'