Canonical Allele Identifier: CA784579190

Gene:

Linked Data

• dbSNP Id: rs1414278361
• gnomAD v3: 4-102499886-G-A
• gnomAD v4: 4-102499886-G-A
• MyVariant Identifiers: chr4:g.103421043G>A (hg19) ; chr4:g.102499886G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102499886G>A , CM000666.2:g.102499886G>A	GRCh38
NC_000004.11:g.103421043G>A , CM000666.1:g.103421043G>A	GRCh37
NC_000004.10:g.103640075G>A	NCBI36
NG_050628.1:g.3558G>A

Transcript Alleles

HGVS	Amino-acid Change
XM_011532467.1:c.643+1363C>T	XP_011530769.1:n.643+1363C>T
NR_136202.1:n.48+2553C>T