Canonical Allele Identifier: CA1268336165

Linked Data

dbSNP Id: rs191950192
gnomAD v3: 2-88859725-G-A
gnomAD v4: 2-88859725-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88859725G>A , CM000664.2:g.88859725G>A GRCh38
NC_000002.11:g.89159237G>A , CM000664.1:g.89159237G>A GRCh37
NC_000002.10:g.88940352G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000377423.6:c.389-2042C>T (IGKV1-12) ENSP00000480537.2:n.389-2042C>T
ENST00000430694.5:c.37+1161C>T (IGKC) ENSP00000481923.2:n.37+1161C>T
ENST00000610638.3:c.397+1800C>T (IGKC) ENSP00000484499.3:n.397+1800C>T
ENST00000634828.1:c.382+1800C>T (IGKV1-8) ENSP00000489500.1:n.382+1800C>T