Canonical Allele Identifier: CA2601816922

Linked Data

gnomAD v3: 2-88859627-C-G
gnomAD v4: 2-88859627-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88859627C>G , CM000664.2:g.88859627C>G GRCh38
NC_000002.11:g.89159139C>G , CM000664.1:g.89159139C>G GRCh37
NC_000002.10:g.88940254C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000377423.6:c.389-1944G>C (IGKV1-12) ENSP00000480537.2:n.389-1944G>C
ENST00000430694.5:c.37+1259G>C (IGKC) ENSP00000481923.2:n.37+1259G>C
ENST00000610638.3:c.397+1898G>C (IGKC) ENSP00000484499.3:n.397+1898G>C
ENST00000634828.1:c.382+1898G>C (IGKV1-8) ENSP00000489500.1:n.382+1898G>C