Canonical Allele Identifier: CA12063716

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132466034G>A , CM000667.2:g.132466034G>A GRCh38
NC_000005.9:g.131801726G>A , CM000667.1:g.131801726G>A GRCh37
NC_000005.8:g.131829625G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000638452.2:c.-169+16345G>A ENSP00000492349.2:n.-169+16345G>A
ENST00000638504.1:n.206+46094G>A
ENST00000638568.2:c.-311+16345G>A ENSP00000491158.2:n.-311+16345G>A
ENST00000639899.1:n.289+16345G>A
ENST00000640655.2:c.-638+16345G>A ENSP00000491596.2:n.-638+16345G>A
ENST00000679921.1:c.293-16368C>T (IRF1) ENSP00000505766.1:n.293-16368C>T
ENST00000681634.1:n.137-16368C>T (IRF1)
ENST00000378953.8:c.89-9633G>A (CARINH) ENSP00000368236.4:n.89-9633G>A
ENST00000407797.5:c.89-4006G>A (CARINH) ENSP00000385513.1:n.89-4006G>A
NR_045116.1:n.428-9633G>A (CARINH)
NM_001207001.2:c.89-9633G>A (CARINH) NP_001193930.1:n.89-9633G>A
NR_161242.1:n.272-9633G>A (CARINH)