Canonical Allele Identifier: CA158136

Gene: CIC

Linked Data

• ClinVar Variation Id: 133909
• ClinVar RCV Id: RCV000120576
• dbSNP Id: rs556245581
• ExAC: 19:42797123 A / C
• gnomAD v2: 19-42797123-A-C
• gnomAD v3: 19-42292971-A-C
• gnomAD v4: 19-42292971-A-C
• MyVariant Identifiers: chr19:g.42797123A>C (hg19) ; chr19:g.42292971A>C (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.42292971A>C , CM000681.2:g.42292971A>C	GRCh38
NC_000019.9:g.42797123A>C , CM000681.1:g.42797123A>C	GRCh37
NC_000019.8:g.47488963A>C	NCBI36
NG_042060.1:g.29435A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684265.1:n.5295A>C
ENST00000681038.1:c.6212A>C MANE Select	ENSP00000505728.1:p.Tyr2071Ser
ENST00000160740.7:c.3479A>C	ENSP00000160740.3:p.Tyr1160Ser
ENST00000572681.6:c.6206A>C	ENSP00000459719.1:p.Tyr2069Ser
ENST00000575354.6:c.3485A>C	ENSP00000458663.2:p.Tyr1162Ser
NM_001304815.1:c.6212A>C	NP_001291744.1:p.Tyr2071Ser
NM_015125.4:c.3485A>C	NP_055940.3:p.Tyr1162Ser
XM_005258673.1:c.3479A>C	XP_005258730.1:p.Tyr1160Ser
XM_005258674.1:c.3482A>C	XP_005258731.1:p.Tyr1161Ser
XM_005258675.1:c.3479A>C	XP_005258732.1:p.Tyr1160Ser
XM_011526660.1:c.6212A>C	XP_011524962.1:p.Tyr2071Ser
XM_011526661.1:c.6209A>C	XP_011524963.1:p.Tyr2070Ser
XM_011526662.1:c.6209A>C	XP_011524964.1:p.Tyr2070Ser
XM_011526663.1:c.6212A>C	XP_011524965.1:p.Tyr2071Ser
XM_011526664.1:c.6206A>C	XP_011524966.1:p.Tyr2069Ser
XM_011526665.1:c.6212A>C	XP_011524967.1:p.Tyr2071Ser
XM_011526666.1:c.6212A>C	XP_011524968.1:p.Tyr2071Ser
XM_011526667.1:c.*33A>C	XP_011524969.1:n.*33A>C
XR_935775.1:n.6156A>C
XR_935776.1:n.6135A>C
XR_935777.1:n.6132A>C
XR_935778.1:n.6129A>C
XR_935779.1:n.5968A>C
XM_005258673.2:c.3479A>C	XP_005258730.1:p.Tyr1160Ser
XM_005258674.2:c.3482A>C	XP_005258731.1:p.Tyr1161Ser
XM_005258675.2:c.3479A>C	XP_005258732.1:p.Tyr1160Ser
XM_011526660.2:c.6212A>C	XP_011524962.1:p.Tyr2071Ser
XM_011526661.2:c.6209A>C	XP_011524963.1:p.Tyr2070Ser
XM_011526662.2:c.6209A>C	XP_011524964.1:p.Tyr2070Ser
XM_011526663.2:c.6212A>C	XP_011524965.1:p.Tyr2071Ser
XM_011526664.2:c.6206A>C	XP_011524966.1:p.Tyr2069Ser
XM_011526665.2:c.6212A>C	XP_011524967.1:p.Tyr2071Ser
XM_011526666.2:c.6212A>C	XP_011524968.1:p.Tyr2071Ser
XM_011526667.2:c.*33A>C	XP_011524969.1:n.*33A>C
XM_024451432.1:c.6209A>C	XP_024307200.1:p.Tyr2070Ser
XM_024451433.1:c.6209A>C	XP_024307201.1:p.Tyr2070Ser
XR_002958286.1:n.6155A>C
XR_002958287.1:n.6155A>C
XR_002958288.1:n.6134A>C
XR_002958289.1:n.6131A>C
XR_002958290.1:n.6131A>C
XR_935778.2:n.6128A>C
XR_935779.2:n.5967A>C
NM_001304815.2:c.6212A>C	NP_001291744.1:p.Tyr2071Ser
NM_001379480.1:c.6209A>C	NP_001366409.1:p.Tyr2070Ser
NM_001379482.1:c.6212A>C	NP_001366411.1:p.Tyr2071Ser
NM_001379484.1:c.3485A>C	NP_001366413.1:p.Tyr1162Ser
NM_001379485.1:c.3485A>C	NP_001366414.1:p.Tyr1162Ser
NM_001386298.1:c.6212A>C MANE Select	NP_001373227.1:p.Tyr2071Ser
NM_015125.5:c.3485A>C	NP_055940.3:p.Tyr1162Ser