Canonical Allele Identifier: CA784579117

Gene:

Linked Data

• dbSNP Id: rs1281880225
• gnomAD v3: 4-102499762-T-A
• gnomAD v4: 4-102499762-T-A
• MyVariant Identifiers: chr4:g.103420919T>A (hg19) ; chr4:g.102499762T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102499762T>A , CM000666.2:g.102499762T>A	GRCh38
NC_000004.11:g.103420919T>A , CM000666.1:g.103420919T>A	GRCh37
NC_000004.10:g.103639951T>A	NCBI36
NG_050628.1:g.3434T>A

Transcript Alleles

HGVS	Amino-acid Change
XM_011532467.1:c.643+1487A>T	XP_011530769.1:n.643+1487A>T
NR_136202.1:n.48+2677A>T