Canonical Allele Identifier: CA389023600

Gene: MYH6

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23400772C>G , CM000676.2:g.23400772C>G	GRCh38
NC_000014.8:g.23869981C>G , CM000676.1:g.23869981C>G	GRCh37
NC_000014.7:g.22939821C>G	NCBI36
NG_023444.1:g.12506G>C , LRG_389:g.12506G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002471.4:c.1347G>C MANE Select	NP_002462.2:p.Glu449Asp
ENST00000405093.9:c.1347G>C MANE Select	ENSP00000386041.3:p.Glu449Asp
NM_002471.3:c.1347G>C , LRG_389t1:c.1347G>C	NP_002462.2:p.Glu449Asp
ENST00000356287.3:c.1347G>C	ENSP00000348634.3:p.Glu449Asp
ENST00000405093.7:c.1347G>C	ENSP00000386041.3:p.Glu449Asp
ENST00000557461.1:n.1401G>C
ENST00000557461.2:n.1414G>C