Canonical Allele Identifier: CA1066140379

Gene:

Linked Data

• gnomAD v3: 4-102499696-T-C
• gnomAD v4: 4-102499696-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102499696T>C , CM000666.2:g.102499696T>C	GRCh38
NC_000004.11:g.103420853T>C , CM000666.1:g.103420853T>C	GRCh37
NC_000004.10:g.103639885T>C	NCBI36
NG_050628.1:g.3368T>C

Transcript Alleles

HGVS	Amino-acid Change
XM_011532467.1:c.643+1553A>G	XP_011530769.1:n.643+1553A>G
NR_136202.1:n.48+2743A>G