Canonical Allele Identifier: CA155828715

Gene:

Linked Data

• dbSNP Id: rs1014391663
• gnomAD v4: 7-24282687-G-T
• MyVariant Identifiers: chr7:g.24322306G>T (hg19) ; chr7:g.24282687G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24282687G>T , CM000669.2:g.24282687G>T	GRCh38
NC_000007.13:g.24322306G>T , CM000669.1:g.24322306G>T	GRCh37
NC_000007.12:g.24288831G>T	NCBI36
NG_016148.1:g.3500G>T

Transcript Alleles

HGVS	Amino-acid Change
XM_017012910.1:c.42-26988C>A	XP_016868399.1:n.42-26988C>A
XM_017012911.1:c.42-26988C>A	XP_016868400.1:n.42-26988C>A
XR_001745121.1:n.473+36670C>A
XR_001745122.1:n.345-85658C>A
XR_001745123.1:n.473+36670C>A
XR_001745124.1:n.473+36670C>A
XR_001745125.1:n.473+36670C>A
XR_001745126.1:n.473+36670C>A
XR_001745127.1:n.345-26988C>A
XR_001745129.1:n.473+36670C>A
XR_001745130.1:n.473+36670C>A
XR_001745131.1:n.473+36670C>A
XR_001745132.1:n.473+36670C>A