Canonical Allele Identifier: CA406113591

Gene: CIC

Linked Data

• ClinVar Variation Id: 431171
• ClinVar RCV Id: RCV000496576 ; RCV000850481
• dbSNP Id: rs1135401825
• MyVariant Identifiers: chr19:g.42796325C>T (hg19) ; chr19:g.42292173C>T (hg38)
• PubMed: PMID:28288114

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.42292173C>T , CM000681.2:g.42292173C>T	GRCh38
NC_000019.9:g.42796325C>T , CM000681.1:g.42796325C>T	GRCh37
NC_000019.8:g.47488165C>T	NCBI36
NG_042060.1:g.28637C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684265.1:n.4784C>T
ENST00000681038.1:c.5701C>T MANE Select	ENSP00000505728.1:p.Gln1901Ter
ENST00000160740.7:c.2974C>T	ENSP00000160740.3:p.Gln992Ter
ENST00000572681.6:c.5701C>T	ENSP00000459719.1:p.Gln1901Ter
ENST00000575354.6:c.2974C>T	ENSP00000458663.2:p.Gln992Ter
NM_001304815.1:c.5701C>T	NP_001291744.1:p.Gln1901Ter
NM_015125.4:c.2974C>T	NP_055940.3:p.Gln992Ter
XM_005258673.1:c.2974C>T	XP_005258730.1:p.Gln992Ter
XM_005258674.1:c.2974C>T	XP_005258731.1:p.Gln992Ter
XM_005258675.1:c.2974C>T	XP_005258732.1:p.Gln992Ter
XM_011526660.1:c.5701C>T	XP_011524962.1:p.Gln1901Ter
XM_011526661.1:c.5701C>T	XP_011524963.1:p.Gln1901Ter
XM_011526662.1:c.5701C>T	XP_011524964.1:p.Gln1901Ter
XM_011526663.1:c.5701C>T	XP_011524965.1:p.Gln1901Ter
XM_011526664.1:c.5701C>T	XP_011524966.1:p.Gln1901Ter
XM_011526665.1:c.5701C>T	XP_011524967.1:p.Gln1901Ter
XM_011526666.1:c.5701C>T	XP_011524968.1:p.Gln1901Ter
XM_011526667.1:c.5701C>T	XP_011524969.1:p.Gln1901Ter
XR_935775.1:n.5812C>T
XR_935776.1:n.5624C>T
XR_935777.1:n.5624C>T
XR_935778.1:n.5624C>T
XR_935779.1:n.5624C>T
XM_005258673.2:c.2974C>T	XP_005258730.1:p.Gln992Ter
XM_005258674.2:c.2974C>T	XP_005258731.1:p.Gln992Ter
XM_005258675.2:c.2974C>T	XP_005258732.1:p.Gln992Ter
XM_011526660.2:c.5701C>T	XP_011524962.1:p.Gln1901Ter
XM_011526661.2:c.5701C>T	XP_011524963.1:p.Gln1901Ter
XM_011526662.2:c.5701C>T	XP_011524964.1:p.Gln1901Ter
XM_011526663.2:c.5701C>T	XP_011524965.1:p.Gln1901Ter
XM_011526664.2:c.5701C>T	XP_011524966.1:p.Gln1901Ter
XM_011526665.2:c.5701C>T	XP_011524967.1:p.Gln1901Ter
XM_011526666.2:c.5701C>T	XP_011524968.1:p.Gln1901Ter
XM_011526667.2:c.5701C>T	XP_011524969.1:p.Gln1901Ter
XM_024451432.1:c.5701C>T	XP_024307200.1:p.Gln1901Ter
XM_024451433.1:c.5701C>T	XP_024307201.1:p.Gln1901Ter
XR_002958286.1:n.5811C>T
XR_002958287.1:n.5811C>T
XR_002958288.1:n.5623C>T
XR_002958289.1:n.5623C>T
XR_002958290.1:n.5623C>T
XR_935778.2:n.5623C>T
XR_935779.2:n.5623C>T
NM_001304815.2:c.5701C>T	NP_001291744.1:p.Gln1901Ter
NM_001379480.1:c.5701C>T	NP_001366409.1:p.Gln1901Ter
NM_001379482.1:c.5701C>T	NP_001366411.1:p.Gln1901Ter
NM_001379484.1:c.2974C>T	NP_001366413.1:p.Gln992Ter
NM_001379485.1:c.2974C>T	NP_001366414.1:p.Gln992Ter
NM_001386298.1:c.5701C>T MANE Select	NP_001373227.1:p.Gln1901Ter
NM_015125.5:c.2974C>T	NP_055940.3:p.Gln992Ter