Canonical Allele Identifier: CA134496
Gene: MYH6 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.23403422A>T
GRCh37 chr14:g.23872631A>T
Revel Score:
ENST00000405093 (MANE Select) 0.510
ENST00000356287 0.510
gnomAD v2:
14:23872631 A / T
gnomAD v3:
14:23403422 A / T
gnomAD v4:
chr14-23403422-A-T
Joint Max Group AF 0.00013355 (MID)
Genomes Max Group AF 0.00009051 (NFE)
Exomes Max Group AF 0.00014138 (MID)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000405093.9:c.824T>A MANE Select ENSP00000386041.3:p.Ile275Asn
ENST00000557461.2:n.891T>A
ENST00000356287.3:c.824T>A ENSP00000348634.3:p.Ile275Asn
ENST00000405093.7:c.824T>A ENSP00000386041.3:p.Ile275Asn
ENST00000557461.1:n.878T>A
NM_002471.3:c.824T>A , LRG_389t1:c.824T>A NP_002462.2:p.Ile275Asn
NM_002471.4:c.824T>A MANE Select NP_002462.2:p.Ile275Asn
Search 100 bp 5'
Search 100 bp 3'