Canonical Allele Identifier: CA389037307

Gene: MYH7 MHRT

Linked Data

• MyVariant Identifiers: chr14:g.23885227G>A (hg19) ; chr14:g.23416018G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23416018G>A , CM000676.2:g.23416018G>A	GRCh38
NC_000014.8:g.23885227G>A , CM000676.1:g.23885227G>A	GRCh37
NC_000014.7:g.22955067G>A	NCBI36
NG_007884.1:g.24644C>T , LRG_384:g.24644C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.4939C>T (MYH7) MANE Select	ENSP00000347507.3:p.Gln1647Ter
ENST00000355349.3:c.4939C>T (MYH7)	ENSP00000347507.3:p.Gln1647Ter
NM_000257.3:c.4939C>T (MYH7)	NP_000248.2:p.Gln1647Ter
NR_126491.1:n.279G>A (MHRT)
XM_017021340.1:c.4939C>T (MYH7)	XP_016876829.1:p.Gln1647Ter
NM_000257.4:c.4939C>T (MYH7) MANE Select	NP_000248.2:p.Gln1647Ter