Canonical Allele Identifier: CA924610255

Gene:

Linked Data

• dbSNP Id: rs1835152170
• gnomAD v3: 10-7047083-G-C
• gnomAD v4: 10-7047083-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.7047083G>C , CM000672.2:g.7047083G>C	GRCh38
NC_000010.10:g.7089045G>C , CM000672.1:g.7089045G>C	GRCh37
NC_000010.9:g.7129051G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_930623.1:n.173-16766C>G
XR_930624.1:n.171-16766C>G
XR_930625.1:n.172-16766C>G
XR_930626.1:n.168-16766C>G
XR_930627.1:n.173-16766C>G
XR_001747351.1:n.364-16766C>G
XR_001747352.1:n.364-16766C>G
XR_001747353.1:n.188-34427C>G
XR_001747354.1:n.364-16766C>G
XR_930623.2:n.364-16766C>G
XR_930624.2:n.364-16766C>G
XR_930625.2:n.364-16766C>G
XR_930626.2:n.364-16766C>G
XR_930627.2:n.364-16766C>G