Canonical Allele Identifier: CA389042775

Gene: MYH7

Linked Data

• MyVariant Identifiers: chr14:g.23888799C>A (hg19) ; chr14:g.23419590C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23419590C>A , CM000676.2:g.23419590C>A	GRCh38
NC_000014.8:g.23888799C>A , CM000676.1:g.23888799C>A	GRCh37
NC_000014.7:g.22958639C>A	NCBI36
NG_007884.1:g.21072G>T , LRG_384:g.21072G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.3746G>T MANE Select	ENSP00000347507.3:p.Cys1249Phe
ENST00000355349.3:c.3746G>T	ENSP00000347507.3:p.Cys1249Phe
NM_000257.3:c.3746G>T	NP_000248.2:p.Cys1249Phe
XM_017021340.1:c.3746G>T	XP_016876829.1:p.Cys1249Phe
NM_000257.4:c.3746G>T MANE Select	NP_000248.2:p.Cys1249Phe