Canonical Allele Identifier: CA176972

Gene: MYH6

Linked Data

• ClinVar Variation Id: 164257
• ClinVar RCV Id: RCV000208506 ; RCV000151226 ; RCV000995139 ; RCV002390325 ; RCV002498699 ; RCV001321909
• dbSNP Id: rs727503239
• ExAC: 14:23876272 C / T
• gnomAD v2: 14-23876272-C-T
• gnomAD v3: 14-23407063-C-T
• gnomAD v4: 14-23407063-C-T
• MyVariant Identifiers: chr14:g.23876272C>T (hg19) ; chr14:g.23407063C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23407063C>T , CM000676.2:g.23407063C>T	GRCh38
NC_000014.8:g.23876272C>T , CM000676.1:g.23876272C>T	GRCh37
NC_000014.7:g.22946112C>T	NCBI36
NG_023444.1:g.6215G>A , LRG_389:g.6215G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405093.9:c.161G>A MANE Select	ENSP00000386041.3:p.Arg54Gln
ENST00000557461.2:n.228G>A
ENST00000356287.3:c.161G>A	ENSP00000348634.3:p.Arg54Gln
ENST00000405093.7:c.161G>A	ENSP00000386041.3:p.Arg54Gln
ENST00000557461.1:n.215G>A
NM_002471.3:c.161G>A , LRG_389t1:c.161G>A	NP_002462.2:p.Arg54Gln
NM_002471.4:c.161G>A MANE Select	NP_002462.2:p.Arg54Gln