Canonical Allele Identifier: CA573373516

Gene:

Linked Data

• dbSNP Id: rs1395035318
• gnomAD v2: 7-24323454-C-T
• gnomAD v3: 7-24283835-C-T
• gnomAD v4: 7-24283835-C-T
• MyVariant Identifiers: chr7:g.24323454C>T (hg19) ; chr7:g.24283835C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24283835C>T , CM000669.2:g.24283835C>T	GRCh38
NC_000007.13:g.24323454C>T , CM000669.1:g.24323454C>T	GRCh37
NC_000007.12:g.24289979C>T	NCBI36
NG_016148.1:g.4648C>T

Transcript Alleles

HGVS	Amino-acid Change
XM_017012910.1:c.42-28136G>A	XP_016868399.1:n.42-28136G>A
XM_017012911.1:c.42-28136G>A	XP_016868400.1:n.42-28136G>A
XR_001745121.1:n.473+35522G>A
XR_001745122.1:n.345-86806G>A
XR_001745123.1:n.473+35522G>A
XR_001745124.1:n.473+35522G>A
XR_001745125.1:n.473+35522G>A
XR_001745126.1:n.473+35522G>A
XR_001745127.1:n.345-28136G>A
XR_001745129.1:n.473+35522G>A
XR_001745130.1:n.473+35522G>A
XR_001745131.1:n.473+35522G>A
XR_001745132.1:n.473+35522G>A