Canonical Allele Identifier: CA51502561
Gene: IGKV1-12 HGNC NCBI
IGKC HGNC NCBI
IGKV1-8 HGNC NCBI

Linked Data

dbSNP Id: rs558790736
gnomAD v3: 2-88859766-T-C
gnomAD v4: 2-88859766-T-C
COSMIC: COSN23358286 COSN25223117 COSN25493498 COSN25575092
MyVariant Identifiers: chr2:g.89159278T>C (hg19) chr2:g.88859766T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88859766T>C , CM000664.2:g.88859766T>C GRCh38
NC_000002.11:g.89159278T>C , CM000664.1:g.89159278T>C GRCh37
NC_000002.10:g.88940393T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000377423.6:c.389-2083A>G (IGKV1-12) ENSP00000480537.2:n.389-2083A>G
ENST00000430694.5:c.37+1120A>G (IGKC) ENSP00000481923.2:n.37+1120A>G
ENST00000610638.3:c.397+1759A>G (IGKC) ENSP00000484499.3:n.397+1759A>G
ENST00000634828.1:c.382+1759A>G (IGKV1-8) ENSP00000489500.1:n.382+1759A>G
Search 100 bp 5'
Search 100 bp 3'