Canonical Allele Identifier: CA7115061
Gene: MYH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 470532
ClinVar RCV Id: RCV000525254 RCV002358551 RCV002476177
dbSNP Id: rs762102758
ExAC: 14:23858823 C / T
gnomAD v2: 14-23858823-C-T
gnomAD v3: 14-23389614-C-T
gnomAD v4: 14-23389614-C-T
COSMIC: COSM4545675
MyVariant Identifiers: chr14:g.23858823C>T (hg19) chr14:g.23389614C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23389614C>T , CM000676.2:g.23389614C>T GRCh38
NC_000014.8:g.23858823C>T , CM000676.1:g.23858823C>T GRCh37
NC_000014.7:g.22928663C>T NCBI36
NG_023444.1:g.23664G>A , LRG_389:g.23664G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000405093.9:c.3838G>A MANE Select ENSP00000386041.3:p.Ala1280Thr
ENST00000356287.3:c.3838G>A ENSP00000348634.3:p.Ala1280Thr
ENST00000405093.7:c.3838G>A ENSP00000386041.3:p.Ala1280Thr
NM_002471.3:c.3838G>A , LRG_389t1:c.3838G>A NP_002462.2:p.Ala1280Thr
NM_002471.4:c.3838G>A MANE Select NP_002462.2:p.Ala1280Thr
Search 100 bp 5'
Search 100 bp 3'