Canonical Allele Identifier: CA15398416
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132461230G>A , CM000667.2:g.132461230G>A GRCh38
NC_000005.9:g.131796922G>A , CM000667.1:g.131796922G>A GRCh37
NC_000005.8:g.131824821G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000638452.2:c.-169+11541G>A ENSP00000492349.2:n.-169+11541G>A
ENST00000638504.1:n.206+41290G>A
ENST00000638568.2:c.-311+11541G>A ENSP00000491158.2:n.-311+11541G>A
ENST00000639899.1:n.289+11541G>A
ENST00000640655.2:c.-638+11541G>A ENSP00000491596.2:n.-638+11541G>A
ENST00000679921.1:c.293-11564C>T (IRF1) ENSP00000505766.1:n.293-11564C>T
ENST00000681634.1:n.137-11564C>T (IRF1)
ENST00000337752.6:c.*376G>A (CARINH) ENSP00000338228.2:n.*376G>A
ENST00000378953.8:c.88+11541G>A (CARINH) ENSP00000368236.4:n.88+11541G>A
ENST00000407797.5:c.89-8810G>A (CARINH) ENSP00000385513.1:n.89-8810G>A
NR_045116.1:n.427+11541G>A (CARINH)
NM_001207001.2:c.88+11541G>A (CARINH) NP_001193930.1:n.88+11541G>A
NR_161242.1:n.271+11541G>A (CARINH)