Canonical Allele Identifier: CA485765917

Gene: MYH7

Linked Data

• dbSNP Id: rs1281444351
• MyVariant Identifiers: chr14:g.23884474G>A (hg19) ; chr14:g.23415265G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23415265G>A , CM000676.2:g.23415265G>A	GRCh38
NC_000014.8:g.23884474G>A , CM000676.1:g.23884474G>A	GRCh37
NC_000014.7:g.22954314G>A	NCBI36
NG_007884.1:g.25397C>T , LRG_384:g.25397C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355349.4:c.5289C>T MANE Select	ENSP00000347507.3:p.Ala1763=
ENST00000355349.3:c.5289C>T	ENSP00000347507.3:p.Ala1763=
NM_000257.3:c.5289C>T	NP_000248.2:p.Ala1763=
XM_017021340.1:c.5289C>T	XP_016876829.1:p.Ala1763=
NM_000257.4:c.5289C>T MANE Select	NP_000248.2:p.Ala1763=