Canonical Allele Identifier: CA237379
Gene: MYH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 191724
ClinVar RCV Id: RCV000172038 RCV000765155 RCV001089357 RCV002354432
dbSNP Id: rs142850511
ExAC: 14:23876318 C / T
gnomAD v2: 14-23876318-C-T
gnomAD v3: 14-23407109-C-T
gnomAD v4: 14-23407109-C-T
MyVariant Identifiers: chr14:g.23876318C>T (hg19) chr14:g.23407109C>T (hg38)
PubMed: PMID:23861362
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23407109C>T , CM000676.2:g.23407109C>T GRCh38
NC_000014.8:g.23876318C>T , CM000676.1:g.23876318C>T GRCh37
NC_000014.7:g.22946158C>T NCBI36
NG_023444.1:g.6169G>A , LRG_389:g.6169G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000405093.9:c.115G>A MANE Select ENSP00000386041.3:p.Val39Met
ENST00000557461.2:n.182G>A
ENST00000356287.3:c.115G>A ENSP00000348634.3:p.Val39Met
ENST00000405093.7:c.115G>A ENSP00000386041.3:p.Val39Met
ENST00000557461.1:n.169G>A
NM_002471.3:c.115G>A , LRG_389t1:c.115G>A NP_002462.2:p.Val39Met
NM_002471.4:c.115G>A MANE Select NP_002462.2:p.Val39Met
Search 100 bp 5'
Search 100 bp 3'