Canonical Allele Identifier: CA51501290
Gene: IGKV1-12 HGNC NCBI
IGKC HGNC NCBI
IGKV1-8 HGNC NCBI

Linked Data

dbSNP Id: rs189321869
gnomAD v3: 2-88859364-C-G
gnomAD v4: 2-88859364-C-G
COSMIC: COSN4808406 COSN23234315 COSN25138119
MyVariant Identifiers: chr2:g.89158877C>G (hg19) chr2:g.88859364C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88859364C>G , CM000664.2:g.88859364C>G GRCh38
NC_000002.11:g.89158877C>G , CM000664.1:g.89158877C>G GRCh37
NC_000002.10:g.88939992C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000377423.6:c.389-1681G>C (IGKV1-12) ENSP00000480537.2:n.389-1681G>C
ENST00000430694.5:c.37+1522G>C (IGKC) ENSP00000481923.2:n.37+1522G>C
ENST00000610638.3:c.398-1681G>C (IGKC) ENSP00000484499.3:n.398-1681G>C
ENST00000634828.1:c.383-1681G>C (IGKV1-8) ENSP00000489500.1:n.383-1681G>C
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