Canonical Allele Identifier: CA646854807

Gene: IGKV1-12 IGKC IGKV1-8

Linked Data

• dbSNP Id: rs538054620
• gnomAD v3: 2-88859783-A-C
• gnomAD v4: 2-88859783-A-C
• COSMIC: COSN25066913
• MyVariant Identifiers: chr2:g.89159295A>C (hg19) ; chr2:g.88859783A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88859783A>C , CM000664.2:g.88859783A>C	GRCh38
NC_000002.11:g.89159295A>C , CM000664.1:g.89159295A>C	GRCh37
NC_000002.10:g.88940410A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377423.6:c.389-2100T>G (IGKV1-12)	ENSP00000480537.2:n.389-2100T>G
ENST00000430694.5:c.37+1103T>G (IGKC)	ENSP00000481923.2:n.37+1103T>G
ENST00000610638.3:c.397+1742T>G (IGKC)	ENSP00000484499.3:n.397+1742T>G
ENST00000634828.1:c.382+1742T>G (IGKV1-8)	ENSP00000489500.1:n.382+1742T>G