Canonical Allele Identifier: CA7115372
Community Standard Title: NM_002471.4(MYH6):c.2807C>T (p.Ala936Val)
Gene: MYH6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23393787G>A , CM000676.2:g.23393787G>A GRCh38
NC_000014.8:g.23862996G>A , CM000676.1:g.23862996G>A GRCh37
NC_000014.7:g.22932836G>A NCBI36
NG_023444.1:g.19491C>T , LRG_389:g.19491C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002471.4:c.2807C>T MANE Select NP_002462.2:p.Ala936Val
ENST00000405093.9:c.2807C>T MANE Select ENSP00000386041.3:p.Ala936Val
NM_002471.3:c.2807C>T , LRG_389t1:c.2807C>T NP_002462.2:p.Ala936Val
ENST00000356287.3:c.2807C>T ENSP00000348634.3:p.Ala936Val
ENST00000405093.7:c.2807C>T ENSP00000386041.3:p.Ala936Val