Canonical Allele Identifier: CA1035506095

Gene:

Linked Data

• dbSNP Id: rs1421687030
• gnomAD v3: 2-118079874-G-T
• gnomAD v4: 2-118079874-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.118079874G>T , CM000664.2:g.118079874G>T	GRCh38
NC_000002.11:g.118837450G>T , CM000664.1:g.118837450G>T	GRCh37
NC_000002.10:g.118553920G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_011512305.1:c.697-2342C>A	XP_011510607.1:n.697-2342C>A
XR_001739662.2:n.138+8377C>A