Canonical Allele Identifier: CA51502827

Linked Data

dbSNP Id: rs540283429
gnomAD v3: 2-88859821-A-T
gnomAD v4: 2-88859821-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88859821A>T , CM000664.2:g.88859821A>T GRCh38
NC_000002.11:g.89159333A>T , CM000664.1:g.89159333A>T GRCh37
NC_000002.10:g.88940448A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000377423.6:c.388+2065T>A (IGKV1-12) ENSP00000480537.2:n.388+2065T>A
ENST00000430694.5:c.37+1065T>A (IGKC) ENSP00000481923.2:n.37+1065T>A
ENST00000610638.3:c.397+1704T>A (IGKC) ENSP00000484499.3:n.397+1704T>A
ENST00000634828.1:c.382+1704T>A (IGKV1-8) ENSP00000489500.1:n.382+1704T>A