Canonical Allele Identifier: CA389035865

Gene: MYH7

Linked Data

• ClinVar Variation Id: 2582517
• ClinVar RCV Id: RCV003333509 ; RCV003333505 ; RCV003333507 ; RCV003333506 ; RCV003333508
• dbSNP Id: rs1326035646
• gnomAD v2: 14-23884449-C-T
• gnomAD v4: 14-23415240-C-T
• MyVariant Identifiers: chr14:g.23884449C>T (hg19) ; chr14:g.23415240C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23415240C>T , CM000676.2:g.23415240C>T	GRCh38
NC_000014.8:g.23884449C>T , CM000676.1:g.23884449C>T	GRCh37
NC_000014.7:g.22954289C>T	NCBI36
NG_007884.1:g.25422G>A , LRG_384:g.25422G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.5314G>A MANE Select	ENSP00000347507.3:p.Glu1772Lys
ENST00000355349.3:c.5314G>A	ENSP00000347507.3:p.Glu1772Lys
NM_000257.3:c.5314G>A	NP_000248.2:p.Glu1772Lys
XM_017021340.1:c.5314G>A	XP_016876829.1:p.Glu1772Lys
NM_000257.4:c.5314G>A MANE Select	NP_000248.2:p.Glu1772Lys