Canonical Allele Identifier: CA389050779

Gene: MYH7

Linked Data

• MyVariant Identifiers: chr14:g.23898206G>T (hg19) ; chr14:g.23428997G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23428997G>T , CM000676.2:g.23428997G>T	GRCh38
NC_000014.8:g.23898206G>T , CM000676.1:g.23898206G>T	GRCh37
NC_000014.7:g.22968046G>T	NCBI36
NG_007884.1:g.11665C>A , LRG_384:g.11665C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.1365C>A MANE Select	ENSP00000347507.3:p.Tyr455Ter
ENST00000355349.3:c.1365C>A	ENSP00000347507.3:p.Tyr455Ter
NM_000257.3:c.1365C>A	NP_000248.2:p.Tyr455Ter
XR_245686.3:n.1471C>A
XM_017021340.1:c.1365C>A	XP_016876829.1:p.Tyr455Ter
NM_000257.4:c.1365C>A MANE Select	NP_000248.2:p.Tyr455Ter