Canonical Allele Identifier: CA1099423965

Gene:

Linked Data

• dbSNP Id: rs1787228545
• gnomAD v3: 7-24283568-G-A
• gnomAD v4: 7-24283568-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24283568G>A , CM000669.2:g.24283568G>A	GRCh38
NC_000007.13:g.24323187G>A , CM000669.1:g.24323187G>A	GRCh37
NC_000007.12:g.24289712G>A	NCBI36
NG_016148.1:g.4381G>A

Transcript Alleles

HGVS	Amino-acid Change
XM_017012910.1:c.42-27869C>T	XP_016868399.1:n.42-27869C>T
XM_017012911.1:c.42-27869C>T	XP_016868400.1:n.42-27869C>T
XR_001745121.1:n.473+35789C>T
XR_001745122.1:n.345-86539C>T
XR_001745123.1:n.473+35789C>T
XR_001745124.1:n.473+35789C>T
XR_001745125.1:n.473+35789C>T
XR_001745126.1:n.473+35789C>T
XR_001745127.1:n.345-27869C>T
XR_001745129.1:n.473+35789C>T
XR_001745130.1:n.473+35789C>T
XR_001745131.1:n.473+35789C>T
XR_001745132.1:n.473+35789C>T