Canonical Allele Identifier: CA257811620

Gene: MYH7 MHRT

Linked Data

• dbSNP Id: rs121913647
• MyVariant Identifiers: chr14:g.23886382C>A (hg19) ; chr14:g.23417173C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23417173C>A , CM000676.2:g.23417173C>A	GRCh38
NC_000014.8:g.23886382C>A , CM000676.1:g.23886382C>A	GRCh37
NC_000014.7:g.22956222C>A	NCBI36
NG_007884.1:g.23489G>T , LRG_384:g.23489G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355349.4:c.4499G>T (MYH7) MANE Select	ENSP00000347507.3:p.Arg1500Leu
ENST00000355349.3:c.4499G>T (MYH7)	ENSP00000347507.3:p.Arg1500Leu
NM_000257.3:c.4499G>T (MYH7)	NP_000248.2:p.Arg1500Leu
NR_126491.1:n.652-39C>A (MHRT)
XM_017021340.1:c.4499G>T (MYH7)	XP_016876829.1:p.Arg1500Leu
NM_000257.4:c.4499G>T (MYH7) MANE Select	NP_000248.2:p.Arg1500Leu