Canonical Allele Identifier: CA909017100

Gene:

Linked Data

• dbSNP Id: rs1331183907
• gnomAD v3: 3-61428072-C-A
• gnomAD v4: 3-61428072-C-A
• MyVariant Identifiers: chr3:g.61413746C>A (hg19) ; chr3:g.61428072C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.61428072C>A , CM000665.2:g.61428072C>A	GRCh38
NC_000003.11:g.61413746C>A , CM000665.1:g.61413746C>A	GRCh37
NC_000003.10:g.61388786C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_940892.1:n.165-386G>T
XR_940893.1:n.164+442G>T
XR_001740725.1:n.202+442G>T
XR_940892.2:n.203-386G>T