Canonical Allele Identifier: CA389042066

Gene: MYH7

Linked Data

• COSMIC: COSM3495223
• MyVariant Identifiers: chr14:g.23888752C>T (hg19) ; chr14:g.23419543C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23419543C>T , CM000676.2:g.23419543C>T	GRCh38
NC_000014.8:g.23888752C>T , CM000676.1:g.23888752C>T	GRCh37
NC_000014.7:g.22958592C>T	NCBI36
NG_007884.1:g.21119G>A , LRG_384:g.21119G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.3793G>A MANE Select	ENSP00000347507.3:p.Glu1265Lys
ENST00000355349.3:c.3793G>A	ENSP00000347507.3:p.Glu1265Lys
NM_000257.3:c.3793G>A	NP_000248.2:p.Glu1265Lys
XM_017021340.1:c.3793G>A	XP_016876829.1:p.Glu1265Lys
NM_000257.4:c.3793G>A MANE Select	NP_000248.2:p.Glu1265Lys