Canonical Allele Identifier: CA646854856
Gene: IGKV1-12 HGNC NCBI
IGKC HGNC NCBI
IGKV1-8 HGNC NCBI

Linked Data

dbSNP Id: rs551160750
gnomAD v3: 2-88859797-T-A
gnomAD v4: 2-88859797-T-A
COSMIC: COSN23108251
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88859797T>A , CM000664.2:g.88859797T>A GRCh38
NC_000002.11:g.89159309T>A , CM000664.1:g.89159309T>A GRCh37
NC_000002.10:g.88940424T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000377423.6:c.388+2089A>T (IGKV1-12) ENSP00000480537.2:n.388+2089A>T
ENST00000430694.5:c.37+1089A>T (IGKC) ENSP00000481923.2:n.37+1089A>T
ENST00000610638.3:c.397+1728A>T (IGKC) ENSP00000484499.3:n.397+1728A>T
ENST00000634828.1:c.382+1728A>T (IGKV1-8) ENSP00000489500.1:n.382+1728A>T
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