Canonical Allele Identifier: CA679357260

Linked Data

dbSNP Id: rs1227521233
gnomAD v3: 11-6609907-C-A
gnomAD v4: 11-6609907-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6609907C>A , CM000673.2:g.6609907C>A GRCh38
NC_000011.9:g.6631138C>A , CM000673.1:g.6631138C>A GRCh37
NC_000011.8:g.6587714C>A NCBI36
NG_029702.1:g.11175C>A , LRG_444:g.11175C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299421.9:c.979-29C>A (ILK) MANE Select ENSP00000299421.4:n.979-29C>A
ENST00000299424.9:c.*1015G>T (TAF10) MANE Select ENSP00000299424.4:n.*1015G>T
ENST00000299421.8:c.979-29C>A (ILK) ENSP00000299421.3:n.979-29C>A
ENST00000396751.6:c.979-29C>A (ILK) ENSP00000379975.2:n.979-29C>A
ENST00000420936.6:c.979-29C>A (ILK) ENSP00000403487.2:n.979-29C>A
ENST00000526318.2:c.328-696C>A (ILK) ENSP00000480597.1:n.328-696C>A
ENST00000526711.5:c.*690-29C>A (ILK) ENSP00000479932.1:n.*690-29C>A
ENST00000528784.5:n.852-29C>A (ILK)
ENST00000528995.5:c.796-29C>A (ILK) ENSP00000435323.1:n.796-29C>A
ENST00000530016.5:n.1316-29C>A (ILK)
ENST00000532063.5:c.577-29C>A (ILK) ENSP00000434492.2:n.577-29C>A
ENST00000537806.5:c.1072-29C>A (ILK) ENSP00000439606.2:n.1072-29C>A
ENST00000616342.1:n.1781G>T (TAF10)
NM_001014794.2:c.979-29C>A (ILK) NP_001014794.1:n.979-29C>A
NM_001014795.2:c.979-29C>A (ILK) NP_001014795.1:n.979-29C>A
NM_001278441.1:c.796-29C>A (ILK) NP_001265370.1:n.796-29C>A
NM_001278442.1:c.577-29C>A (ILK) NP_001265371.1:n.577-29C>A
NM_004517.3:c.979-29C>A (ILK) NP_004508.1:n.979-29C>A
XM_005252904.3:c.979-29C>A (ILK) XP_005252961.1:n.979-29C>A
XM_005252905.1:c.577-29C>A (ILK) XP_005252962.1:n.577-29C>A
XM_011520065.1:c.979-29C>A (ILK) XP_011518367.1:n.979-29C>A
XM_005252904.5:c.979-29C>A (ILK) XP_005252961.1:n.979-29C>A
XM_005252905.3:c.577-29C>A (ILK) XP_005252962.1:n.577-29C>A
XM_017017672.1:c.826-29C>A (ILK) XP_016873161.1:n.826-29C>A
XM_024448494.1:c.1072-29C>A (ILK) XP_024304262.1:n.1072-29C>A
XM_024448495.1:c.1072-29C>A (ILK) XP_024304263.1:n.1072-29C>A
XM_024448496.1:c.1072-29C>A (ILK) XP_024304264.1:n.1072-29C>A
XM_024448497.1:c.1072-29C>A (ILK) XP_024304265.1:n.1072-29C>A
XM_024448498.1:c.826-29C>A (ILK) XP_024304266.1:n.826-29C>A
XM_024448499.1:c.826-29C>A (ILK) XP_024304267.1:n.826-29C>A
XM_024448500.1:c.670-29C>A (ILK) XP_024304268.1:n.670-29C>A
NM_006284.4:c.*1015G>T (TAF10) MANE Select NP_006275.1:n.*1015G>T
NM_001014794.3:c.979-29C>A (ILK) NP_001014794.1:n.979-29C>A
NM_001014795.3:c.979-29C>A (ILK) NP_001014795.1:n.979-29C>A
NM_001278441.2:c.796-29C>A (ILK) NP_001265370.1:n.796-29C>A
NM_004517.4:c.979-29C>A (ILK) MANE Select NP_004508.1:n.979-29C>A
NM_001278442.2:c.577-29C>A (ILK) NP_001265371.1:n.577-29C>A