Canonical Allele Identifier: CA1033396129
Gene: IGKV1-12 HGNC NCBI
IGKC HGNC NCBI
IGKV1-8 HGNC NCBI

Linked Data

dbSNP Id: rs1573529195
gnomAD v3: 2-88859498-T-G
gnomAD v4: 2-88859498-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88859498T>G , CM000664.2:g.88859498T>G GRCh38
NC_000002.11:g.89159010T>G , CM000664.1:g.89159010T>G GRCh37
NC_000002.10:g.88940125T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000377423.6:c.389-1815A>C (IGKV1-12) ENSP00000480537.2:n.389-1815A>C
ENST00000430694.5:c.37+1388A>C (IGKC) ENSP00000481923.2:n.37+1388A>C
ENST00000610638.3:c.398-1815A>C (IGKC) ENSP00000484499.3:n.398-1815A>C
ENST00000634828.1:c.383-1815A>C (IGKV1-8) ENSP00000489500.1:n.383-1815A>C
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