Canonical Allele Identifier: CA784579236

Gene:

Linked Data

• dbSNP Id: rs1259061289
• gnomAD v3: 4-102500045-A-G
• gnomAD v4: 4-102500045-A-G
• MyVariant Identifiers: chr4:g.103421202A>G (hg19) ; chr4:g.102500045A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102500045A>G , CM000666.2:g.102500045A>G	GRCh38
NC_000004.11:g.103421202A>G , CM000666.1:g.103421202A>G	GRCh37
NC_000004.10:g.103640234A>G	NCBI36
NG_050628.1:g.3717A>G

Transcript Alleles

HGVS	Amino-acid Change
XM_011532467.1:c.643+1204T>C	XP_011530769.1:n.643+1204T>C
NR_136202.1:n.48+2394T>C