Canonical Allele Identifier: CA908188490

Gene:

Linked Data

• dbSNP Id: rs1460780240
• gnomAD v3: 3-53057228-G-A
• gnomAD v4: 3-53057228-G-A
• MyVariant Identifiers: chr3:g.53091244G>A (hg19) ; chr3:g.53057228G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53057228G>A , CM000665.2:g.53057228G>A	GRCh38
NC_000003.11:g.53091244G>A , CM000665.1:g.53091244G>A	GRCh37
NC_000003.10:g.53066284G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607203.1:c.318-9989C>T
ENST00000607283.5:c.465-13974C>T
ENST00000607495.5:c.447+20460C>T