Canonical Allele Identifier: CA015840

Gene: MYH7

Linked Data

• ClinVar Variation Id: 138384
• ClinVar RCV Id: RCV000168912 ; RCV001528378 ; RCV002055689 ; RCV002492479
• dbSNP Id: rs45582836
• ExAC: 14:23884571 G / A
• gnomAD v2: 14-23884571-G-A
• gnomAD v3: 14-23415362-G-A
• gnomAD v4: 14-23415362-G-A
• MyVariant Identifiers: chr14:g.23884571G>A (hg19) ; chr14:g.23415362G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23415362G>A , CM000676.2:g.23415362G>A	GRCh38
NC_000014.8:g.23884571G>A , CM000676.1:g.23884571G>A	GRCh37
NC_000014.7:g.22954411G>A	NCBI36
NG_007884.1:g.25300C>T , LRG_384:g.25300C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355349.4:c.5283+19C>T MANE Select	ENSP00000347507.3:n.5283+19C>T
ENST00000355349.3:c.5283+19C>T	ENSP00000347507.3:n.5283+19C>T
NM_000257.3:c.5283+19C>T	NP_000248.2:n.5283+19C>T
XM_017021340.1:c.5283+19C>T	XP_016876829.1:n.5283+19C>T
NM_000257.4:c.5283+19C>T MANE Select	NP_000248.2:n.5283+19C>T