Canonical Allele Identifier: CA389010892
Gene: MYH6 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.23393437C>T
GRCh37 chr14:g.23862646C>T
Revel Score:
ENST00000405093 (MANE Select) 0.493
ENST00000356287 0.493
ClinVar RCV:
RCV003019361
ClinVar Variation:
2102119
dbSNP:
143978652
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23393437C>T , CM000676.2:g.23393437C>T GRCh38
NC_000014.8:g.23862646C>T , CM000676.1:g.23862646C>T GRCh37
NC_000014.7:g.22932486C>T NCBI36
NG_023444.1:g.19841G>A , LRG_389:g.19841G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000405093.9:c.3010G>A MANE Select ENSP00000386041.3:p.Ala1004Thr
ENST00000356287.3:c.3010G>A ENSP00000348634.3:p.Ala1004Thr
ENST00000405093.7:c.3010G>A ENSP00000386041.3:p.Ala1004Thr
NM_002471.3:c.3010G>A , LRG_389t1:c.3010G>A NP_002462.2:p.Ala1004Thr
NM_002471.4:c.3010G>A MANE Select NP_002462.2:p.Ala1004Thr
Search 100 bp 5'
Search 100 bp 3'