Canonical Allele Identifier: CA1033366791

Linked Data

dbSNP Id: rs553108696
gnomAD v3: 2-88859643-G-C
gnomAD v4: 2-88859643-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88859643G>C , CM000664.2:g.88859643G>C GRCh38
NC_000002.11:g.89159155G>C , CM000664.1:g.89159155G>C GRCh37
NC_000002.10:g.88940270G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000377423.6:c.389-1960C>G (IGKV1-12) ENSP00000480537.2:n.389-1960C>G
ENST00000430694.5:c.37+1243C>G (IGKC) ENSP00000481923.2:n.37+1243C>G
ENST00000610638.3:c.397+1882C>G (IGKC) ENSP00000484499.3:n.397+1882C>G
ENST00000634828.1:c.382+1882C>G (IGKV1-8) ENSP00000489500.1:n.382+1882C>G