Canonical Allele Identifier: CA257138
Gene: MYH6 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.23394264G>A
GRCh37 chr14:g.23863473G>A
Revel Score:
ENST00000405093 (MANE Select) 0.939
ENST00000356287 0.939
gnomAD v4:
chr14-23394264-G-A
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000015213
ClinVar Variation:
14150
dbSNP:
267606906
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23394264G>A , CM000676.2:g.23394264G>A GRCh38
NC_000014.8:g.23863473G>A , CM000676.1:g.23863473G>A GRCh37
NC_000014.7:g.22933313G>A NCBI36
NG_023444.1:g.19014C>T , LRG_389:g.19014C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000405093.9:c.2489C>T MANE Select ENSP00000386041.3:p.Pro830Leu
ENST00000356287.3:c.2489C>T ENSP00000348634.3:p.Pro830Leu
ENST00000405093.7:c.2489C>T ENSP00000386041.3:p.Pro830Leu
NM_002471.3:c.2489C>T , LRG_389t1:c.2489C>T NP_002462.2:p.Pro830Leu
NM_002471.4:c.2489C>T MANE Select NP_002462.2:p.Pro830Leu
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