Canonical Allele Identifier: CA1033366847

Linked Data

dbSNP Id: rs542237304
gnomAD v3: 2-88859665-T-G
gnomAD v4: 2-88859665-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88859665T>G , CM000664.2:g.88859665T>G GRCh38
NC_000002.11:g.89159177T>G , CM000664.1:g.89159177T>G GRCh37
NC_000002.10:g.88940292T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000377423.6:c.389-1982A>C (IGKV1-12) ENSP00000480537.2:n.389-1982A>C
ENST00000430694.5:c.37+1221A>C (IGKC) ENSP00000481923.2:n.37+1221A>C
ENST00000610638.3:c.397+1860A>C (IGKC) ENSP00000484499.3:n.397+1860A>C
ENST00000634828.1:c.382+1860A>C (IGKV1-8) ENSP00000489500.1:n.382+1860A>C