Canonical Allele Identifier: CA389003103

Gene: MYH6

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23389504C>G , CM000676.2:g.23389504C>G	GRCh38
NC_000014.8:g.23858713C>G , CM000676.1:g.23858713C>G	GRCh37
NC_000014.7:g.22928553C>G	NCBI36
NG_023444.1:g.23774G>C , LRG_389:g.23774G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002471.4:c.3867G>C MANE Select	NP_002462.2:p.Leu1289Phe
ENST00000405093.9:c.3867G>C MANE Select	ENSP00000386041.3:p.Leu1289Phe
NM_002471.3:c.3867G>C , LRG_389t1:c.3867G>C	NP_002462.2:p.Leu1289Phe
ENST00000356287.3:c.3867G>C	ENSP00000348634.3:p.Leu1289Phe
ENST00000405093.7:c.3867G>C	ENSP00000386041.3:p.Leu1289Phe