Canonical Allele Identifier: CA51501597
Gene: IGKV1-12 HGNC NCBI
IGKC HGNC NCBI
IGKV1-8 HGNC NCBI

Linked Data

dbSNP Id: rs570615040
gnomAD v3: 2-88859472-A-C
gnomAD v4: 2-88859472-A-C
MyVariant Identifiers: chr2:g.89158984A>C (hg19) chr2:g.88859472A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88859472A>C , CM000664.2:g.88859472A>C GRCh38
NC_000002.11:g.89158984A>C , CM000664.1:g.89158984A>C GRCh37
NC_000002.10:g.88940099A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000377423.6:c.389-1789T>G (IGKV1-12) ENSP00000480537.2:n.389-1789T>G
ENST00000430694.5:c.37+1414T>G (IGKC) ENSP00000481923.2:n.37+1414T>G
ENST00000610638.3:c.398-1789T>G (IGKC) ENSP00000484499.3:n.398-1789T>G
ENST00000634828.1:c.383-1789T>G (IGKV1-8) ENSP00000489500.1:n.383-1789T>G
Search 100 bp 5'
Search 100 bp 3'