Canonical Allele Identifier: CA389001874
Gene: MYH6 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.23388937G>A
GRCh37 chr14:g.23858146G>A
Revel Score:
ENST00000405093 (MANE Select) 0.713
ENST00000356287 0.713
gnomAD v2:
14:23858146 G / A
gnomAD v3:
14:23388937 G / A
gnomAD v4:
chr14-23388937-G-A
Joint Max Group AF 0.00003471 (AFR)
Exomes Max Group AF 0.0000585 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23388937G>A , CM000676.2:g.23388937G>A GRCh38
NC_000014.8:g.23858146G>A , CM000676.1:g.23858146G>A GRCh37
NC_000014.7:g.22927986G>A NCBI36
NG_023444.1:g.24341C>T , LRG_389:g.24341C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000405093.9:c.4097C>T MANE Select ENSP00000386041.3:p.Ala1366Val
ENST00000356287.3:c.4097C>T ENSP00000348634.3:p.Ala1366Val
ENST00000405093.7:c.4097C>T ENSP00000386041.3:p.Ala1366Val
NM_002471.3:c.4097C>T , LRG_389t1:c.4097C>T NP_002462.2:p.Ala1366Val
NM_002471.4:c.4097C>T MANE Select NP_002462.2:p.Ala1366Val
Search 100 bp 5'
Search 100 bp 3'