Canonical Allele Identifier: CA389011459

Gene: MYH6

Linked Data

• MyVariant Identifiers: chr14:g.23862717A>C (hg19) ; chr14:g.23393508A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23393508A>C , CM000676.2:g.23393508A>C	GRCh38
NC_000014.8:g.23862717A>C , CM000676.1:g.23862717A>C	GRCh37
NC_000014.7:g.22932557A>C	NCBI36
NG_023444.1:g.19770T>G , LRG_389:g.19770T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405093.9:c.2939T>G MANE Select	ENSP00000386041.3:p.Leu980Arg
ENST00000356287.3:c.2939T>G	ENSP00000348634.3:p.Leu980Arg
ENST00000405093.7:c.2939T>G	ENSP00000386041.3:p.Leu980Arg
NM_002471.3:c.2939T>G , LRG_389t1:c.2939T>G	NP_002462.2:p.Leu980Arg
NM_002471.4:c.2939T>G MANE Select	NP_002462.2:p.Leu980Arg