Canonical Allele Identifier: CA134322
Gene: MYH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 44480
ClinVar RCV Id: RCV000037473 RCV000244685 RCV001513926 RCV001668160
dbSNP Id: rs365990
ExAC: 14:23861811 A / G
gnomAD v2: 14-23861811-A-G
gnomAD v3: 14-23392602-A-G
gnomAD v4: 14-23392602-A-G
MyVariant Identifiers: chr14:g.23861811A>G (hg19) chr14:g.23392602A>G (hg38)
PubMed: PMID:23861362
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23392602A>G , CM000676.2:g.23392602A>G GRCh38
NC_000014.8:g.23861811A>G , CM000676.1:g.23861811A>G GRCh37
NC_000014.7:g.22931651A>G NCBI36
NG_023444.1:g.20676T>C , LRG_389:g.20676T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000405093.9:c.3302T>C MANE Select ENSP00000386041.3:p.Val1101Ala
ENST00000356287.3:c.3302T>C ENSP00000348634.3:p.Val1101Ala
ENST00000405093.7:c.3302T>C ENSP00000386041.3:p.Val1101Ala
NM_002471.3:c.3302T>C , LRG_389t1:c.3302T>C NP_002462.2:p.Val1101Ala
NM_002471.4:c.3302T>C MANE Select NP_002462.2:p.Val1101Ala
Search 100 bp 5'
Search 100 bp 3'