Canonical Allele Identifier: CA389012159
Gene: MYH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1796877

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23393740G>A , CM000676.2:g.23393740G>A GRCh38
NC_000014.8:g.23862949G>A , CM000676.1:g.23862949G>A GRCh37
NC_000014.7:g.22932789G>A NCBI36
NG_023444.1:g.19538C>T , LRG_389:g.19538C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000405093.9:c.2854C>T MANE Select ENSP00000386041.3:p.Leu952Phe
ENST00000356287.3:c.2854C>T ENSP00000348634.3:p.Leu952Phe
ENST00000405093.7:c.2854C>T ENSP00000386041.3:p.Leu952Phe
NM_002471.3:c.2854C>T , LRG_389t1:c.2854C>T NP_002462.2:p.Leu952Phe
NM_002471.4:c.2854C>T MANE Select NP_002462.2:p.Leu952Phe