Canonical Allele Identifier: CA1033367245

Linked Data

dbSNP Id: rs575246059
gnomAD v3: 2-88859782-A-T
gnomAD v4: 2-88859782-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88859782A>T , CM000664.2:g.88859782A>T GRCh38
NC_000002.11:g.89159294A>T , CM000664.1:g.89159294A>T GRCh37
NC_000002.10:g.88940409A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000377423.6:c.389-2099T>A (IGKV1-12) ENSP00000480537.2:n.389-2099T>A
ENST00000430694.5:c.37+1104T>A (IGKC) ENSP00000481923.2:n.37+1104T>A
ENST00000610638.3:c.397+1743T>A (IGKC) ENSP00000484499.3:n.397+1743T>A
ENST00000634828.1:c.382+1743T>A (IGKV1-8) ENSP00000489500.1:n.382+1743T>A