Canonical Allele Identifier: CA646854505

Linked Data

dbSNP Id: rs184556410
gnomAD v3: 2-88859503-T-G
gnomAD v4: 2-88859503-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88859503T>G , CM000664.2:g.88859503T>G GRCh38
NC_000002.11:g.89159015T>G , CM000664.1:g.89159015T>G GRCh37
NC_000002.10:g.88940130T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000377423.6:c.389-1820A>C (IGKV1-12) ENSP00000480537.2:n.389-1820A>C
ENST00000430694.5:c.37+1383A>C (IGKC) ENSP00000481923.2:n.37+1383A>C
ENST00000610638.3:c.398-1820A>C (IGKC) ENSP00000484499.3:n.398-1820A>C
ENST00000634828.1:c.383-1820A>C (IGKV1-8) ENSP00000489500.1:n.383-1820A>C