Canonical Allele Identifier: CA1066140440

Gene:

Linked Data

• dbSNP Id: rs1253962633
• gnomAD v3: 4-102499802-C-G
• gnomAD v4: 4-102499802-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102499802C>G , CM000666.2:g.102499802C>G	GRCh38
NC_000004.11:g.103420959C>G , CM000666.1:g.103420959C>G	GRCh37
NC_000004.10:g.103639991C>G	NCBI36
NG_050628.1:g.3474C>G

Transcript Alleles

HGVS	Amino-acid Change
XM_011532467.1:c.643+1447G>C	XP_011530769.1:n.643+1447G>C
NR_136202.1:n.48+2637G>C