Canonical Allele Identifier: CA015944

Gene: MYH7

Linked Data

• ClinVar Variation Id: 177629
• ClinVar RCV Id: RCV000154209 ; RCV000168915 ; RCV000462813 ; RCV000514376 ; RCV000620185 ; RCV000765157 ; RCV001170485 ; RCV002265629
• dbSNP Id: rs369437262
• ExAC: 14:23884437 T / C
• gnomAD v2: 14-23884437-T-C
• gnomAD v3: 14-23415228-T-C
• gnomAD v4: 14-23415228-T-C
• MyVariant Identifiers: chr14:g.23884437T>C (hg19) ; chr14:g.23415228T>C (hg38)
• ERepo: CA015944/MONDO:0005045/002
• PubMed: PMID:11861410 ; PMID:11861413 ; PMID:15136674 ; PMID:16918501 ; PMID:21239446 ; PMID:23074333 ; PMID:25961035 ; PMID:27247418 ; PMID:29300372

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23415228T>C , CM000676.2:g.23415228T>C	GRCh38
NC_000014.8:g.23884437T>C , CM000676.1:g.23884437T>C	GRCh37
NC_000014.7:g.22954277T>C	NCBI36
NG_007884.1:g.25434A>G , LRG_384:g.25434A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355349.4:c.5326A>G MANE Select	ENSP00000347507.3:p.Ser1776Gly
ENST00000355349.3:c.5326A>G	ENSP00000347507.3:p.Ser1776Gly
NM_000257.3:c.5326A>G	NP_000248.2:p.Ser1776Gly
XM_017021340.1:c.5326A>G	XP_016876829.1:p.Ser1776Gly
NM_000257.4:c.5326A>G MANE Select	NP_000248.2:p.Ser1776Gly