Canonical Allele Identifier: CA1099542406

Gene:

Linked Data

• dbSNP Id: rs1785340635
• gnomAD v3: 7-25968462-T-C
• gnomAD v4: 7-25968462-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.25968462T>C , CM000669.2:g.25968462T>C	GRCh38
NC_000007.13:g.26008082T>C , CM000669.1:g.26008082T>C	GRCh37
NC_000007.12:g.25974607T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_927113.1:n.1492-12963A>G
XR_927114.1:n.1492-29001A>G
XR_927115.1:n.1583-12963A>G
XR_927116.1:n.983-12963A>G
XR_927117.1:n.1336-12963A>G
XR_927118.1:n.1580-12963A>G
XR_927119.1:n.1243-12963A>G
XR_927120.1:n.1228-29001A>G
XR_927122.1:n.718-29001A>G
XR_927123.1:n.1201-12963A>G
XR_927113.2:n.1519-12963A>G
XR_927114.2:n.1519-29001A>G
XR_927116.2:n.1013-12963A>G
XR_927117.2:n.1364-12963A>G
XR_927119.2:n.1850-12963A>G
XR_927120.2:n.1256-29001A>G
XR_927122.2:n.750-29001A>G
XR_927123.2:n.1224-12963A>G