Canonical Allele Identifier: CA1066140424

Gene:

Linked Data

• dbSNP Id: rs1738880510
• gnomAD v3: 4-102499756-G-A
• gnomAD v4: 4-102499756-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102499756G>A , CM000666.2:g.102499756G>A	GRCh38
NC_000004.11:g.103420913G>A , CM000666.1:g.103420913G>A	GRCh37
NC_000004.10:g.103639945G>A	NCBI36
NG_050628.1:g.3428G>A

Transcript Alleles

HGVS	Amino-acid Change
XM_011532467.1:c.643+1493C>T	XP_011530769.1:n.643+1493C>T
NR_136202.1:n.48+2683C>T