Canonical Allele Identifier: CA9473019

Gene: CIC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.42295152C>A , CM000681.2:g.42295152C>A	GRCh38
NC_000019.9:g.42799304C>A , CM000681.1:g.42799304C>A	GRCh37
NC_000019.8:g.47491144C>A	NCBI36
NG_042060.1:g.31616C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001386298.1:c.7515C>A MANE Select	NP_001373227.1:p.Pro2505=
ENST00000681038.1:c.7515C>A MANE Select	ENSP00000505728.1:p.Pro2505=
NM_001304815.1:c.7515C>A	NP_001291744.1:p.Pro2505=
NM_001304815.2:c.7515C>A	NP_001291744.1:p.Pro2505=
NM_001379480.1:c.7512C>A	NP_001366409.1:p.Pro2504=
NM_001379482.1:c.7512C>A	NP_001366411.1:p.Pro2504=
NM_001379484.1:c.4782C>A	NP_001366413.1:p.Pro1594=
NM_001379485.1:c.4779C>A	NP_001366414.1:p.Pro1593=
NM_015125.4:c.4788C>A	NP_055940.3:p.Pro1596=
NM_015125.5:c.4788C>A	NP_055940.3:p.Pro1596=
ENST00000160740.7:c.4782C>A	ENSP00000160740.3:p.Pro1594=
ENST00000572681.6:c.7506C>A	ENSP00000459719.1:p.Pro2502=
ENST00000575354.6:c.4788C>A	ENSP00000458663.2:p.Pro1596=
ENST00000576505.6:c.922C>A
ENST00000684265.1:n.6595C>A
XM_005258673.1:c.4782C>A	XP_005258730.1:p.Pro1594=
XM_005258673.2:c.4782C>A	XP_005258730.1:p.Pro1594=
XM_005258674.1:c.4782C>A	XP_005258731.1:p.Pro1594=
XM_005258674.2:c.4782C>A	XP_005258731.1:p.Pro1594=
XM_005258675.1:c.4779C>A	XP_005258732.1:p.Pro1593=
XM_005258675.2:c.4779C>A	XP_005258732.1:p.Pro1593=
XM_011526660.1:c.7515C>A	XP_011524962.1:p.Pro2505=
XM_011526660.2:c.7515C>A	XP_011524962.1:p.Pro2505=
XM_011526661.1:c.7512C>A	XP_011524963.1:p.Pro2504=
XM_011526661.2:c.7512C>A	XP_011524963.1:p.Pro2504=
XM_011526662.1:c.7512C>A	XP_011524964.1:p.Pro2504=
XM_011526662.2:c.7512C>A	XP_011524964.1:p.Pro2504=
XM_011526663.1:c.7512C>A	XP_011524965.1:p.Pro2504=
XM_011526663.2:c.7512C>A	XP_011524965.1:p.Pro2504=
XM_011526664.1:c.7509C>A	XP_011524966.1:p.Pro2503=
XM_011526664.2:c.7509C>A	XP_011524966.1:p.Pro2503=
XM_011526665.1:c.7509C>A	XP_011524967.1:p.Pro2503=
XM_011526665.2:c.7509C>A	XP_011524967.1:p.Pro2503=
XM_011526666.1:c.7506C>A	XP_011524968.1:p.Pro2502=
XM_011526666.2:c.7506C>A	XP_011524968.1:p.Pro2502=
XM_024451432.1:c.7509C>A	XP_024307200.1:p.Pro2503=
XM_024451433.1:c.7506C>A	XP_024307201.1:p.Pro2502=
XR_002958286.1:n.7458C>A
XR_002958287.1:n.7455C>A
XR_002958288.1:n.7437C>A
XR_002958289.1:n.7434C>A
XR_002958290.1:n.7434C>A