Canonical Allele Identifier: CA472921658

Linked Data

dbSNP Id: rs1419936517
gnomAD v2: 11-6631280-T-G
gnomAD v3: 11-6610049-T-G
gnomAD v4: 11-6610049-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6610049T>G , CM000673.2:g.6610049T>G GRCh38
NC_000011.9:g.6631280T>G , CM000673.1:g.6631280T>G GRCh37
NC_000011.8:g.6587856T>G NCBI36
NG_029702.1:g.11317T>G , LRG_444:g.11317T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299421.9:c.1078+14T>G (ILK) MANE Select ENSP00000299421.4:n.1078+14T>G
ENST00000299424.9:c.*873A>C (TAF10) MANE Select ENSP00000299424.4:n.*873A>C
ENST00000299421.8:c.1078+14T>G (ILK) ENSP00000299421.3:n.1078+14T>G
ENST00000396751.6:c.1078+14T>G (ILK) ENSP00000379975.2:n.1078+14T>G
ENST00000420936.6:c.1078+14T>G (ILK) ENSP00000403487.2:n.1078+14T>G
ENST00000526318.2:c.328-554T>G (ILK) ENSP00000480597.1:n.328-554T>G
ENST00000526711.5:c.*789+14T>G (ILK) ENSP00000479932.1:n.*789+14T>G
ENST00000528995.5:c.895+14T>G (ILK) ENSP00000435323.1:n.895+14T>G
ENST00000530016.5:n.1415+14T>G (ILK)
ENST00000532063.5:c.676+14T>G (ILK) ENSP00000434492.2:n.676+14T>G
ENST00000537806.5:c.1171+14T>G (ILK) ENSP00000439606.2:n.1171+14T>G
ENST00000616342.1:n.1639A>C (TAF10)
NM_001014794.2:c.1078+14T>G (ILK) NP_001014794.1:n.1078+14T>G
NM_001014795.2:c.1078+14T>G (ILK) NP_001014795.1:n.1078+14T>G
NM_001278441.1:c.895+14T>G (ILK) NP_001265370.1:n.895+14T>G
NM_001278442.1:c.676+14T>G (ILK) NP_001265371.1:n.676+14T>G
NM_004517.3:c.1078+14T>G (ILK) NP_004508.1:n.1078+14T>G
XM_005252904.3:c.1078+14T>G (ILK) XP_005252961.1:n.1078+14T>G
XM_005252905.1:c.676+14T>G (ILK) XP_005252962.1:n.676+14T>G
XM_011520065.1:c.1078+14T>G (ILK) XP_011518367.1:n.1078+14T>G
XM_005252904.5:c.1078+14T>G (ILK) XP_005252961.1:n.1078+14T>G
XM_005252905.3:c.676+14T>G (ILK) XP_005252962.1:n.676+14T>G
XM_017017672.1:c.925+14T>G (ILK) XP_016873161.1:n.925+14T>G
XM_024448494.1:c.1171+14T>G (ILK) XP_024304262.1:n.1171+14T>G
XM_024448495.1:c.1171+14T>G (ILK) XP_024304263.1:n.1171+14T>G
XM_024448496.1:c.1171+14T>G (ILK) XP_024304264.1:n.1171+14T>G
XM_024448497.1:c.1171+14T>G (ILK) XP_024304265.1:n.1171+14T>G
XM_024448498.1:c.925+14T>G (ILK) XP_024304266.1:n.925+14T>G
XM_024448499.1:c.925+14T>G (ILK) XP_024304267.1:n.925+14T>G
XM_024448500.1:c.769+14T>G (ILK) XP_024304268.1:n.769+14T>G
NM_006284.4:c.*873A>C (TAF10) MANE Select NP_006275.1:n.*873A>C
NM_001014794.3:c.1078+14T>G (ILK) NP_001014794.1:n.1078+14T>G
NM_001014795.3:c.1078+14T>G (ILK) NP_001014795.1:n.1078+14T>G
NM_001278441.2:c.895+14T>G (ILK) NP_001265370.1:n.895+14T>G
NM_004517.4:c.1078+14T>G (ILK) MANE Select NP_004508.1:n.1078+14T>G
NM_001278442.2:c.676+14T>G (ILK) NP_001265371.1:n.676+14T>G