Canonical Allele Identifier: CA389047964

Gene: MYH7

Linked Data

• MyVariant Identifiers: chr14:g.23894032C>A (hg19) ; chr14:g.23424823C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23424823C>A , CM000676.2:g.23424823C>A	GRCh38
NC_000014.8:g.23894032C>A , CM000676.1:g.23894032C>A	GRCh37
NC_000014.7:g.22963872C>A	NCBI36
NG_007884.1:g.15839G>T , LRG_384:g.15839G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355349.4:c.2625G>T MANE Select	ENSP00000347507.3:p.Glu875Asp
ENST00000355349.3:c.2625G>T	ENSP00000347507.3:p.Glu875Asp
NM_000257.3:c.2625G>T	NP_000248.2:p.Glu875Asp
XR_245686.3:n.2731G>T
XM_017021340.1:c.2625G>T	XP_016876829.1:p.Glu875Asp
NM_000257.4:c.2625G>T MANE Select	NP_000248.2:p.Glu875Asp