Canonical Allele Identifier: CA013815
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 42965
ClinVar RCV Id: RCV000158611 RCV000627139 RCV001059046 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
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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'