Canonical Allele Identifier: CA1066140571

Gene:

Linked Data

• dbSNP Id: rs1738896041
• gnomAD v3: 4-102499999-C-T
• gnomAD v4: 4-102499999-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102499999C>T , CM000666.2:g.102499999C>T	GRCh38
NC_000004.11:g.103421156C>T , CM000666.1:g.103421156C>T	GRCh37
NC_000004.10:g.103640188C>T	NCBI36
NG_050628.1:g.3671C>T

Transcript Alleles

HGVS	Amino-acid Change
XM_011532467.1:c.643+1250G>A	XP_011530769.1:n.643+1250G>A
NR_136202.1:n.48+2440G>A