Canonical Allele Identifier: CA646854335
Gene: IGKV1-12 HGNC NCBI
IGKC HGNC NCBI
IGKV1-8 HGNC NCBI

Linked Data

dbSNP Id: rs189321869
gnomAD v3: 2-88859364-C-T
gnomAD v4: 2-88859364-C-T
COSMIC: COSN23293226 COSN25152219 COSN25175107 COSN25679864
MyVariant Identifiers: chr2:g.89158877C>T (hg19) chr2:g.88859364C>T (hg38)
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Genomic Alleles

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

Transcript Alleles

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