Canonical Allele Identifier: CA2601816766

Linked Data

dbSNP Id: rs2104285286
gnomAD v3: 2-88859475-G-A
gnomAD v4: 2-88859475-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88859475G>A , CM000664.2:g.88859475G>A GRCh38
NC_000002.11:g.89158987G>A , CM000664.1:g.89158987G>A GRCh37
NC_000002.10:g.88940102G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000377423.6:c.389-1792C>T (IGKV1-12) ENSP00000480537.2:n.389-1792C>T
ENST00000430694.5:c.37+1411C>T (IGKC) ENSP00000481923.2:n.37+1411C>T
ENST00000610638.3:c.398-1792C>T (IGKC) ENSP00000484499.3:n.398-1792C>T
ENST00000634828.1:c.383-1792C>T (IGKV1-8) ENSP00000489500.1:n.383-1792C>T