Canonical Allele Identifier: CA51501217

Gene: IGKV1-12 IGKC IGKV1-8

Linked Data

• dbSNP Id: rs566570418
• gnomAD v3: 2-88859326-C-A
• gnomAD v4: 2-88859326-C-A
• COSMIC: COSN25567816
• MyVariant Identifiers: chr2:g.89158839C>A (hg19) ; chr2:g.88859326C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88859326C>A , CM000664.2:g.88859326C>A	GRCh38
NC_000002.11:g.89158839C>A , CM000664.1:g.89158839C>A	GRCh37
NC_000002.10:g.88939954C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377423.6:c.389-1643G>T (IGKV1-12)	ENSP00000480537.2:n.389-1643G>T
ENST00000430694.5:c.37+1560G>T (IGKC)	ENSP00000481923.2:n.37+1560G>T
ENST00000610638.3:c.398-1643G>T (IGKC)	ENSP00000484499.3:n.398-1643G>T
ENST00000634828.1:c.383-1643G>T (IGKV1-8)	ENSP00000489500.1:n.383-1643G>T