Canonical Allele Identifier: CA1066140540

Gene:

Linked Data

• dbSNP Id: rs1738893106
• gnomAD v3: 4-102499946-C-G
• gnomAD v4: 4-102499946-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102499946C>G , CM000666.2:g.102499946C>G	GRCh38
NC_000004.11:g.103421103C>G , CM000666.1:g.103421103C>G	GRCh37
NC_000004.10:g.103640135C>G	NCBI36
NG_050628.1:g.3618C>G

Transcript Alleles

HGVS	Amino-acid Change
XM_011532467.1:c.643+1303G>C	XP_011530769.1:n.643+1303G>C
NR_136202.1:n.48+2493G>C