Canonical Allele Identifier: CA2594213538

Gene:

Linked Data

• gnomAD v3: 7-24283573-C-A
• gnomAD v4: 7-24283573-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24283573C>A , CM000669.2:g.24283573C>A	GRCh38
NC_000007.13:g.24323192C>A , CM000669.1:g.24323192C>A	GRCh37
NC_000007.12:g.24289717C>A	NCBI36
NG_016148.1:g.4386C>A

Transcript Alleles

HGVS	Amino-acid Change
XM_017012910.1:c.42-27874G>T	XP_016868399.1:n.42-27874G>T
XM_017012911.1:c.42-27874G>T	XP_016868400.1:n.42-27874G>T
XR_001745121.1:n.473+35784G>T
XR_001745122.1:n.345-86544G>T
XR_001745123.1:n.473+35784G>T
XR_001745124.1:n.473+35784G>T
XR_001745125.1:n.473+35784G>T
XR_001745126.1:n.473+35784G>T
XR_001745127.1:n.345-27874G>T
XR_001745129.1:n.473+35784G>T
XR_001745130.1:n.473+35784G>T
XR_001745131.1:n.473+35784G>T
XR_001745132.1:n.473+35784G>T