Canonical Allele Identifier: CA961063207

Gene: MYH6

Linked Data

• dbSNP Id: rs1566510012
• gnomAD v3: 14-23393616-C-A
• gnomAD v4: 14-23393616-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23393616C>A , CM000676.2:g.23393616C>A	GRCh38
NC_000014.8:g.23862825C>A , CM000676.1:g.23862825C>A	GRCh37
NC_000014.7:g.22932665C>A	NCBI36
NG_023444.1:g.19662G>T , LRG_389:g.19662G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000405093.9:c.2928+50G>T MANE Select	ENSP00000386041.3:n.2928+50G>T
ENST00000356287.3:c.2928+50G>T	ENSP00000348634.3:n.2928+50G>T
ENST00000405093.7:c.2928+50G>T	ENSP00000386041.3:n.2928+50G>T
NM_002471.3:c.2928+50G>T , LRG_389t1:c.2928+50G>T	NP_002462.2:n.2928+50G>T
NM_002471.4:c.2928+50G>T MANE Select	NP_002462.2:n.2928+50G>T