Canonical Allele Identifier: CA389012126

Gene: MYH6

Linked Data

• MyVariant Identifiers: chr14:g.23862943T>G (hg19) ; chr14:g.23393734T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23393734T>G , CM000676.2:g.23393734T>G	GRCh38
NC_000014.8:g.23862943T>G , CM000676.1:g.23862943T>G	GRCh37
NC_000014.7:g.22932783T>G	NCBI36
NG_023444.1:g.19544A>C , LRG_389:g.19544A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405093.9:c.2860A>C MANE Select	ENSP00000386041.3:p.Lys954Gln
ENST00000356287.3:c.2860A>C	ENSP00000348634.3:p.Lys954Gln
ENST00000405093.7:c.2860A>C	ENSP00000386041.3:p.Lys954Gln
NM_002471.3:c.2860A>C , LRG_389t1:c.2860A>C	NP_002462.2:p.Lys954Gln
NM_002471.4:c.2860A>C MANE Select	NP_002462.2:p.Lys954Gln