Canonical Allele Identifier: CA184695
Gene: MYH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 179575
ClinVar RCV Id: RCV000156369 RCV000230778 RCV000303089 RCV000357856 RCV000396069 RCV001798521
dbSNP Id: rs193922652
ExAC: 14:23858271 A / AG
gnomAD v2: 14-23858271-A-AG
gnomAD v3: 14-23389062-A-AG
gnomAD v4: 14-23389062-A-AG
COSMIC: COSM1607520
MyVariant Identifiers: chr14:g.23858272dupG (hg19) chr14:g.23858274_23858275insG (hg19) chr14:g.23858273_23858274insG (hg19) chr14:g.23858271_23858272insG (hg19) chr14:g.23389063dupG (hg38) chr14:g.23389064_23389065insG (hg38) chr14:g.23389062_23389063insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23389072dup , CM000676.2:g.23389072dup GRCh38
NC_000014.8:g.23858281dup , CM000676.1:g.23858281dup GRCh37
NC_000014.7:g.22928121dup NCBI36
NG_023444.1:g.24215dup , LRG_389:g.24215dup

Transcript Alleles

HGVS Amino-acid change
ENST00000405093.9:c.3979-8dup MANE Select ENSP00000386041.3:n.3979-8dup
ENST00000356287.3:c.3979-8dup ENSP00000348634.3:n.3979-8dup
ENST00000405093.7:c.3979-8dup ENSP00000386041.3:n.3979-8dup
NM_002471.3:c.3979-8dup , LRG_389t1:c.3979-8dup NP_002462.2:n.3979-8dup
NM_002471.4:c.3979-8dup MANE Select NP_002462.2:n.3979-8dup
Search 100 bp 5'
Search 100 bp 3'