Canonical Allele Identifier: CA2574896291

Linked Data

ClinVar Variation Id: 1930944
ClinVar RCV Id: RCV002645872

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490312C>T , CM000673.2:g.67490312C>T GRCh38
NC_000011.9:g.67257783C>T , CM000673.1:g.67257783C>T GRCh37
NC_000011.8:g.67014359C>T NCBI36
NG_008969.1:g.12279C>T , LRG_460:g.12279C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000525341.2:c.623-4C>T (AIP)
ENST00000528641.7:c.457-4C>T (AIP) ENSP00000434982.3:n.457-4C>T
ENST00000529797.2:n.1158-4C>T (AIP)
ENST00000682324.1:c.469-685C>T (AIP) ENSP00000508017.1:n.469-685C>T
ENST00000682659.1:c.277-4C>T (AIP) ENSP00000507351.1:n.277-4C>T
ENST00000682699.1:c.646-4C>T (AIP) ENSP00000507935.1:n.646-4C>T
ENST00000683237.1:c.646-4C>T (AIP) ENSP00000507343.1:n.646-4C>T
ENST00000683856.1:c.469-4C>T (AIP) ENSP00000507979.1:n.469-4C>T
ENST00000684006.1:c.646-4C>T (AIP) ENSP00000507269.1:n.646-4C>T
ENST00000684657.1:c.466-4C>T (AIP) ENSP00000507961.1:n.466-4C>T
ENST00000279146.8:c.646-4C>T (AIP) MANE Select ENSP00000279146.3:n.646-4C>T
ENST00000279146.7:c.646-4C>T (AIP) ENSP00000279146.3:n.646-4C>T
ENST00000525341.1:c.298-4C>T (AIP) ENSP00000476993.1:n.298-4C>T
ENST00000528641.6:c.457-4C>T (AIP) ENSP00000434982.2:n.457-4C>T
NM_001302959.1:c.469-4C>T (AIP) NP_001289888.1:n.469-4C>T
NM_001302960.1:c.646-4C>T (AIP) NP_001289889.1:n.646-4C>T
NM_003977.3:c.646-4C>T (AIP) NP_003968.3:n.646-4C>T
NR_106810.1:n.68C>T (MIR6752)
XM_024448761.1:c.646-4C>T (AIP) XP_024304529.1:n.646-4C>T
NM_003977.4:c.646-4C>T (AIP) MANE Select NP_003968.3:n.646-4C>T
NM_001302960.2:c.646-4C>T (AIP) NP_001289889.1:n.646-4C>T
NM_001302959.2:c.469-4C>T (AIP) NP_001289888.1:n.469-4C>T