Canonical Allele Identifier: CA534266545
Gene: IGKV1-12 HGNC NCBI
IGKC HGNC NCBI
IGKV1-8 HGNC NCBI

Linked Data

dbSNP Id: rs1234401561
gnomAD v2: 2-89158851-T-A
gnomAD v3: 2-88859338-T-A
gnomAD v4: 2-88859338-T-A
COSMIC: COSN23378606
MyVariant Identifiers: chr2:g.89158851T>A (hg19) chr2:g.88859338T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88859338T>A , CM000664.2:g.88859338T>A GRCh38
NC_000002.11:g.89158851T>A , CM000664.1:g.89158851T>A GRCh37
NC_000002.10:g.88939966T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000377423.6:c.389-1655A>T (IGKV1-12) ENSP00000480537.2:n.389-1655A>T
ENST00000430694.5:c.37+1548A>T (IGKC) ENSP00000481923.2:n.37+1548A>T
ENST00000610638.3:c.398-1655A>T (IGKC) ENSP00000484499.3:n.398-1655A>T
ENST00000634828.1:c.383-1655A>T (IGKV1-8) ENSP00000489500.1:n.383-1655A>T
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