Canonical Allele Identifier: CA2594213542

Gene:

Linked Data

• dbSNP Id: rs2128231051
• gnomAD v3: 7-24283591-G-C
• gnomAD v4: 7-24283591-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24283591G>C , CM000669.2:g.24283591G>C	GRCh38
NC_000007.13:g.24323210G>C , CM000669.1:g.24323210G>C	GRCh37
NC_000007.12:g.24289735G>C	NCBI36
NG_016148.1:g.4404G>C

Transcript Alleles

HGVS	Amino-acid change
XM_017012910.1:c.42-27892C>G	XP_016868399.1:n.42-27892C>G
XM_017012911.1:c.42-27892C>G	XP_016868400.1:n.42-27892C>G
XR_001745121.1:n.473+35766C>G
XR_001745122.1:n.345-86562C>G
XR_001745123.1:n.473+35766C>G
XR_001745124.1:n.473+35766C>G
XR_001745125.1:n.473+35766C>G
XR_001745126.1:n.473+35766C>G
XR_001745127.1:n.345-27892C>G
XR_001745129.1:n.473+35766C>G
XR_001745130.1:n.473+35766C>G
XR_001745131.1:n.473+35766C>G
XR_001745132.1:n.473+35766C>G