Canonical Allele Identifier: CA613317526
Gene: MYH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 2707854
ClinVar RCV Id: RCV003515575
dbSNP Id: rs1167087484
gnomAD v2: 14-23862747-C-T
gnomAD v4: 14-23393538-C-T
MyVariant Identifiers: chr14:g.23862747C>T (hg19) chr14:g.23393538C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23393538C>T , CM000676.2:g.23393538C>T GRCh38
NC_000014.8:g.23862747C>T , CM000676.1:g.23862747C>T GRCh37
NC_000014.7:g.22932587C>T NCBI36
NG_023444.1:g.19740G>A , LRG_389:g.19740G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000405093.9:c.2929-20G>A MANE Select ENSP00000386041.3:n.2929-20G>A
ENST00000356287.3:c.2929-20G>A ENSP00000348634.3:n.2929-20G>A
ENST00000405093.7:c.2929-20G>A ENSP00000386041.3:n.2929-20G>A
NM_002471.3:c.2929-20G>A , LRG_389t1:c.2929-20G>A NP_002462.2:n.2929-20G>A
NM_002471.4:c.2929-20G>A MANE Select NP_002462.2:n.2929-20G>A
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