Canonical Allele Identifier: CA11500300
Gene: ITIH3 HGNC NCBI

Linked Data

dbSNP Id: rs736408
gnomAD v2: 3-52835354-C-T
gnomAD v3: 3-52801338-C-T
gnomAD v4: 3-52801338-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52801338C>T , CM000665.2:g.52801338C>T GRCh38
NC_000003.11:g.52835354C>T , CM000665.1:g.52835354C>T GRCh37
NC_000003.10:g.52810394C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000703834.1:c.1383+192C>T ENSP00000515492.1:n.1383+192C>T
ENST00000449956.3:c.1383+192C>T MANE Select ENSP00000415769.2:n.1383+192C>T
ENST00000416872.6:c.1383+192C>T ENSP00000413922.2:n.1383+192C>T
ENST00000449956.2:c.1383+192C>T ENSP00000415769.2:n.1383+192C>T
ENST00000464804.1:n.460+192C>T
ENST00000621946.4:c.1383+192C>T ENSP00000479928.1:n.1383+192C>T
NM_002217.3:c.1383+192C>T NP_002208.3:n.1383+192C>T
XM_005265105.3:c.1383+192C>T XP_005265162.1:n.1383+192C>T
XM_006713129.2:c.1383+192C>T XP_006713192.1:n.1383+192C>T
XM_006713130.2:c.1383+192C>T XP_006713193.1:n.1383+192C>T
XM_005265105.5:c.1383+192C>T XP_005265162.1:n.1383+192C>T
XM_024453512.1:c.501+192C>T XP_024309280.1:n.501+192C>T
NM_001392019.1:c.1383+192C>T NP_001378948.1:n.1383+192C>T
NM_001392020.1:c.1383+192C>T NP_001378949.1:n.1383+192C>T
NM_001392021.1:c.1383+192C>T NP_001378950.1:n.1383+192C>T
NM_001392022.1:c.1383+192C>T NP_001378951.1:n.1383+192C>T
NM_001392023.1:c.1362+192C>T NP_001378952.1:n.1362+192C>T
NM_001392024.1:c.1383+192C>T NP_001378953.1:n.1383+192C>T
NM_001392025.1:c.1383+192C>T NP_001378954.1:n.1383+192C>T
NM_001392026.1:c.1383+192C>T NP_001378955.1:n.1383+192C>T
NM_001392027.1:c.1383+192C>T NP_001378956.1:n.1383+192C>T
NM_002217.4:c.1383+192C>T MANE Select NP_002208.3:n.1383+192C>T