Canonical Allele Identifier: CA389028368
Gene: MYH6 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.23403422A>G
GRCh37 chr14:g.23872631A>G
Revel Score:
ENST00000405093 (MANE Select) 0.211
ENST00000356287 0.211
ClinVar Allele:
1500301
ClinVar RCV:
RCV001910061
ClinVar Variation:
1408635
dbSNP:
201327273
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23403422A>G , CM000676.2:g.23403422A>G GRCh38
NC_000014.8:g.23872631A>G , CM000676.1:g.23872631A>G GRCh37
NC_000014.7:g.22942471A>G NCBI36
NG_023444.1:g.9856T>C , LRG_389:g.9856T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000405093.9:c.824T>C MANE Select ENSP00000386041.3:p.Ile275Thr
ENST00000557461.2:n.891T>C
ENST00000356287.3:c.824T>C ENSP00000348634.3:p.Ile275Thr
ENST00000405093.7:c.824T>C ENSP00000386041.3:p.Ile275Thr
ENST00000557461.1:n.878T>C
NM_002471.3:c.824T>C , LRG_389t1:c.824T>C NP_002462.2:p.Ile275Thr
NM_002471.4:c.824T>C MANE Select NP_002462.2:p.Ile275Thr
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