Canonical Allele Identifier: CA123768
Gene: MYH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 14149
ClinVar RCV Id: RCV000015212 RCV000037469 RCV000171836 RCV000414926 RCV000845359 RCV002321482
dbSNP Id: rs267606904
ExAC: 14:23862177 C / G
gnomAD v2: 14-23862177-C-G
gnomAD v3: 14-23392968-C-G
gnomAD v4: 14-23392968-C-G
MyVariant Identifiers: chr14:g.23862177C>G (hg19) chr14:g.23392968C>G (hg38)
PubMed: PMID:15998695 PMID:23861362
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23392968C>G , CM000676.2:g.23392968C>G GRCh38
NC_000014.8:g.23862177C>G , CM000676.1:g.23862177C>G GRCh37
NC_000014.7:g.22932017C>G NCBI36
NG_023444.1:g.20310G>C , LRG_389:g.20310G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000405093.9:c.3195G>C MANE Select ENSP00000386041.3:p.Gln1065His
ENST00000356287.3:c.3195G>C ENSP00000348634.3:p.Gln1065His
ENST00000405093.7:c.3195G>C ENSP00000386041.3:p.Gln1065His
NM_002471.3:c.3195G>C , LRG_389t1:c.3195G>C NP_002462.2:p.Gln1065His
NM_002471.4:c.3195G>C MANE Select NP_002462.2:p.Gln1065His
Search 100 bp 5'
Search 100 bp 3'