Canonical Allele Identifier: CA393788326

Linked Data

ClinVar Variation Id: 1301815
ClinVar RCV Id: RCV001733764
dbSNP Id: rs1963480723

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89624547A>C , CM000677.2:g.89624547A>C GRCh38
NC_000015.9:g.90167778A>C , CM000677.1:g.90167778A>C GRCh37
NC_000015.8:g.87968782A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000268138.12:c.4237A>C (TICRR) MANE Select ENSP00000268138.7:p.Ser1413Arg
ENST00000268138.11:c.4237A>C (TICRR) ENSP00000268138.7:p.Ser1413Arg
ENST00000558928.1:n.180+4054T>G (KIF7)
ENST00000560985.5:c.4234A>C (TICRR) ENSP00000453306.1:p.Ser1412Arg
NM_001308025.1:c.4234A>C (TICRR) NP_001294954.1:p.Ser1412Arg
NM_152259.3:c.4237A>C (TICRR) NP_689472.3:p.Ser1413Arg
XM_011521534.1:c.3973+4054T>G (KIF7) XP_011519836.1:n.3973+4054T>G
XM_011521535.1:c.3973+4054T>G (KIF7) XP_011519837.1:n.3973+4054T>G
XM_011521536.1:c.3973+4054T>G (KIF7) XP_011519838.1:n.3973+4054T>G
XM_011522162.1:c.4237A>C (TICRR) XP_011520464.1:p.Ser1413Arg
NM_152259.4:c.4237A>C (TICRR) MANE Select NP_689472.3:p.Ser1413Arg