Canonical Allele Identifier: CA389038655

Gene: MYH7 MHRT

Linked Data

• MyVariant Identifiers: chr14:g.23886476A>T (hg19) ; chr14:g.23417267A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23417267A>T , CM000676.2:g.23417267A>T	GRCh38
NC_000014.8:g.23886476A>T , CM000676.1:g.23886476A>T	GRCh37
NC_000014.7:g.22956316A>T	NCBI36
NG_007884.1:g.23395T>A , LRG_384:g.23395T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.4405T>A (MYH7) MANE Select	ENSP00000347507.3:p.Ser1469Thr
ENST00000355349.3:c.4405T>A (MYH7)	ENSP00000347507.3:p.Ser1469Thr
NM_000257.3:c.4405T>A (MYH7)	NP_000248.2:p.Ser1469Thr
NR_126491.1:n.707A>T (MHRT)
XM_017021340.1:c.4405T>A (MYH7)	XP_016876829.1:p.Ser1469Thr
NM_000257.4:c.4405T>A (MYH7) MANE Select	NP_000248.2:p.Ser1469Thr