Canonical Allele Identifier: CA015952

Gene: MYH7

Linked Data

• ClinVar Variation Id: 177697
• ClinVar RCV Id: RCV000154298 ; RCV000171839 ; RCV000186557 ; RCV000465931 ; RCV000620826 ; RCV001111830 ; RCV001183990 ; RCV002498736 ; RCV003133153
• dbSNP Id: rs200939753
• ExAC: 14:23884434 C / T
• gnomAD v2: 14-23884434-C-T
• gnomAD v3: 14-23415225-C-T
• gnomAD v4: 14-23415225-C-T
• MyVariant Identifiers: chr14:g.23884434C>T (hg19) ; chr14:g.23415225C>T (hg38)
• ERepo: CA015952/MONDO:0004994/002 ; CA015952/MONDO:0005045/002
• PubMed: PMID:12707239 ; PMID:23861362 ; PMID:24793961 ; PMID:25467552 ; PMID:25961035 ; PMID:26627873 ; PMID:26969127 ; PMID:27247418 ; PMID:27532257 ; PMID:29300372

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23415225C>T , CM000676.2:g.23415225C>T	GRCh38
NC_000014.8:g.23884434C>T , CM000676.1:g.23884434C>T	GRCh37
NC_000014.7:g.22954274C>T	NCBI36
NG_007884.1:g.25437G>A , LRG_384:g.25437G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.5329G>A MANE Select	ENSP00000347507.3:p.Ala1777Thr
ENST00000355349.3:c.5329G>A	ENSP00000347507.3:p.Ala1777Thr
NM_000257.3:c.5329G>A	NP_000248.2:p.Ala1777Thr
XM_017021340.1:c.5329G>A	XP_016876829.1:p.Ala1777Thr
NM_000257.4:c.5329G>A MANE Select	NP_000248.2:p.Ala1777Thr