Canonical Allele Identifier: CA1029770007

Gene:

Linked Data

• dbSNP Id: rs1667991827
• gnomAD v3: 2-41534675-G-C
• gnomAD v4: 2-41534675-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.41534675G>C , CM000664.2:g.41534675G>C	GRCh38
NC_000002.11:g.41761815G>C , CM000664.1:g.41761815G>C	GRCh37
NC_000002.10:g.41615319G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_939996.1:n.181+3051C>G
XR_939997.1:n.146+3051C>G
XR_939997.2:n.9529+3051C>G