Canonical Allele Identifier: CA2123413478

Gene: MYH6

Linked Data

• dbSNP Id: rs1801790354
• gnomAD v4: 14-23392894-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23392894G>A , CM000676.2:g.23392894G>A	GRCh38
NC_000014.8:g.23862103G>A , CM000676.1:g.23862103G>A	GRCh37
NC_000014.7:g.22931943G>A	NCBI36
NG_023444.1:g.20384C>T , LRG_389:g.20384C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000405093.9:c.3251+18C>T MANE Select	ENSP00000386041.3:n.3251+18C>T
ENST00000356287.3:c.3251+18C>T	ENSP00000348634.3:n.3251+18C>T
ENST00000405093.7:c.3251+18C>T	ENSP00000386041.3:n.3251+18C>T
NM_002471.3:c.3251+18C>T , LRG_389t1:c.3251+18C>T	NP_002462.2:n.3251+18C>T
NM_002471.4:c.3251+18C>T MANE Select	NP_002462.2:n.3251+18C>T