Canonical Allele Identifier: CA134311
Gene: MYH6 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.23393437C>A
GRCh37 chr14:g.23862646C>A
Revel Score:
ENST00000405093 (MANE Select) 0.553
ENST00000356287 0.553
gnomAD v2:
14:23862646 C / A
gnomAD v3:
14:23393437 C / A
gnomAD v4:
chr14-23393437-C-A
Joint Max Group AF 0.00193993 (AMR)
Genomes Max Group AF 0.00243151 (AMR)
Exomes Max Group AF 0.00161531 (AMR)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000405093.9:c.3010G>T MANE Select ENSP00000386041.3:p.Ala1004Ser
ENST00000356287.3:c.3010G>T ENSP00000348634.3:p.Ala1004Ser
ENST00000405093.7:c.3010G>T ENSP00000386041.3:p.Ala1004Ser
NM_002471.3:c.3010G>T , LRG_389t1:c.3010G>T NP_002462.2:p.Ala1004Ser
NM_002471.4:c.3010G>T MANE Select NP_002462.2:p.Ala1004Ser
Search 100 bp 5'
Search 100 bp 3'