Canonical Allele Identifier: CA7115480
Gene: MYH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1375285
dbSNP Id: rs763477425
COSMIC: COSM954723

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23396315G>A , CM000676.2:g.23396315G>A GRCh38
NC_000014.8:g.23865524G>A , CM000676.1:g.23865524G>A GRCh37
NC_000014.7:g.22935364G>A NCBI36
NG_023444.1:g.16963C>T , LRG_389:g.16963C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000405093.9:c.2398C>T MANE Select ENSP00000386041.3:p.Arg800Cys
ENST00000356287.3:c.2398C>T ENSP00000348634.3:p.Arg800Cys
ENST00000405093.7:c.2398C>T ENSP00000386041.3:p.Arg800Cys
NM_002471.3:c.2398C>T , LRG_389t1:c.2398C>T NP_002462.2:p.Arg800Cys
NM_002471.4:c.2398C>T MANE Select NP_002462.2:p.Arg800Cys