Canonical Allele Identifier: CA389049609

Gene: MYH7

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23427584C>A , CM000676.2:g.23427584C>A	GRCh38
NC_000014.8:g.23896793C>A , CM000676.1:g.23896793C>A	GRCh37
NC_000014.7:g.22966633C>A	NCBI36
NG_007884.1:g.13078G>T , LRG_384:g.13078G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000257.4:c.1888+1G>T MANE Select	NP_000248.2:n.1888+1G>T
ENST00000355349.4:c.1888+1G>T MANE Select	ENSP00000347507.3:n.1888+1G>T
NM_000257.3:c.1888+1G>T	NP_000248.2:n.1888+1G>T
ENST00000355349.3:c.1888+1G>T	ENSP00000347507.3:n.1888+1G>T
XM_017021340.1:c.1888+1G>T	XP_016876829.1:n.1888+1G>T
XR_245686.3:n.1994+1G>T