Canonical Allele Identifier: CA155828719

Gene:

Linked Data

• dbSNP Id: rs980131610
• gnomAD v3: 7-24282705-C-G
• gnomAD v4: 7-24282705-C-G
• MyVariant Identifiers: chr7:g.24322324C>G (hg19) ; chr7:g.24282705C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24282705C>G , CM000669.2:g.24282705C>G	GRCh38
NC_000007.13:g.24322324C>G , CM000669.1:g.24322324C>G	GRCh37
NC_000007.12:g.24288849C>G	NCBI36
NG_016148.1:g.3518C>G

Transcript Alleles

HGVS	Amino-acid change
XM_017012910.1:c.42-27006G>C	XP_016868399.1:n.42-27006G>C
XM_017012911.1:c.42-27006G>C	XP_016868400.1:n.42-27006G>C
XR_001745121.1:n.473+36652G>C
XR_001745122.1:n.345-85676G>C
XR_001745123.1:n.473+36652G>C
XR_001745124.1:n.473+36652G>C
XR_001745125.1:n.473+36652G>C
XR_001745126.1:n.473+36652G>C
XR_001745127.1:n.345-27006G>C
XR_001745129.1:n.473+36652G>C
XR_001745130.1:n.473+36652G>C
XR_001745131.1:n.473+36652G>C
XR_001745132.1:n.473+36652G>C