Canonical Allele Identifier: CA1046441791

Gene:

Linked Data

• dbSNP Id: rs1695460906
• gnomAD v3: 3-30420852-T-G
• gnomAD v4: 3-30420852-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30420852T>G , CM000665.2:g.30420852T>G	GRCh38
NC_000003.11:g.30462344T>G , CM000665.1:g.30462344T>G	GRCh37
NC_000003.10:g.30437348T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_940686.1:n.1367+28964T>G
XR_940687.1:n.1415+28964T>G
XR_001740627.1:n.801+28964T>G
XR_001740628.1:n.849+28964T>G
XR_427322.3:n.802-15341T>G
XR_940683.2:n.1808A>C