Canonical Allele Identifier: CA516426142

Gene: KDM5C

Linked Data

• ClinVar Variation Id: 1146381
• ClinVar RCV Id: RCV001485567
• dbSNP Id: rs1486904196
• gnomAD v2: X-53227977-C-T
• gnomAD v3: X-53198795-C-T
• gnomAD v4: X-53198795-C-T
• MyVariant Identifiers: chrX:g.53227977C>T (hg19) ; chrX:g.53198795C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53198795C>T , CM000685.2:g.53198795C>T	GRCh38
NC_000023.10:g.53227977C>T , CM000685.1:g.53227977C>T	GRCh37
NC_000023.9:g.53244702C>T	NCBI36
NG_008085.1:g.31628G>A
NG_008085.2:g.31628G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685423.1:c.2337G>A	ENSP00000508806.1:p.Val779=
ENST00000685641.1:c.2337G>A	ENSP00000509818.1:p.Val779=
ENST00000687695.1:c.2334G>A	ENSP00000508631.1:p.Val778=
ENST00000688699.1:c.2337G>A	ENSP00000510430.1:p.Val779=
ENST00000691505.1:c.2337G>A	ENSP00000510354.1:p.Val779=
ENST00000693277.1:c.1842G>A	ENSP00000510522.1:p.Val614=
ENST00000375401.8:c.2337G>A MANE Select	ENSP00000364550.4:p.Val779=
ENST00000375379.7:c.2337G>A	ENSP00000364528.3:p.Val779=
ENST00000375383.7:c.2214G>A	ENSP00000364532.3:p.Val738=
ENST00000375401.7:c.2337G>A	ENSP00000364550.3:p.Val779=
ENST00000404049.7:c.2334G>A	ENSP00000385394.3:p.Val778=
ENST00000452825.7:c.2136G>A	ENSP00000445176.1:p.Val712=
ENST00000497100.5:n.1098G>A
NM_001146702.1:c.2136G>A	NP_001140174.1:p.Val712=
NM_001282622.1:c.2334G>A	NP_001269551.1:p.Val778=
NM_004187.3:c.2337G>A	NP_004178.2:p.Val779=
XM_005262035.3:c.2337G>A	XP_005262092.1:p.Val779=
XM_006724609.2:c.2337G>A	XP_006724672.1:p.Val779=
XM_011530824.1:c.2337G>A	XP_011529126.1:p.Val779=
XM_011530825.1:c.2214G>A	XP_011529127.1:p.Val738=
XM_011530826.1:c.2214G>A	XP_011529128.1:p.Val738=
XM_011530827.1:c.2337G>A	XP_011529129.1:p.Val779=
XM_011530828.1:c.2337G>A	XP_011529130.1:p.Val779=
XM_011530829.1:c.1842G>A	XP_011529131.1:p.Val614=
XM_011530830.1:c.1842G>A	XP_011529132.1:p.Val614=
XM_011530831.1:c.1353G>A	XP_011529133.1:p.Val451=
XR_938369.1:n.2683G>A
XR_938370.1:n.2683G>A
XR_938371.1:n.2683G>A
XR_938372.1:n.2683G>A
XR_938373.1:n.2683G>A
NM_001353978.1:c.2337G>A	NP_001340907.1:p.Val779=
NM_001353979.1:c.2334G>A	NP_001340908.1:p.Val778=
NM_001353981.1:c.2337G>A	NP_001340910.1:p.Val779=
NM_001353982.1:c.2334G>A	NP_001340911.1:p.Val778=
NM_001353984.1:c.2337G>A	NP_001340913.1:p.Val779=
NR_148672.1:n.2870G>A
NR_148673.1:n.2867G>A
NR_148674.1:n.2747G>A
XM_011530824.3:c.2337G>A	XP_011529126.1:p.Val779=
XM_011530825.3:c.2214G>A	XP_011529127.1:p.Val738=
XM_011530826.3:c.2214G>A	XP_011529128.1:p.Val738=
XM_011530827.3:c.2337G>A	XP_011529129.1:p.Val779=
XM_011530828.2:c.2337G>A	XP_011529130.1:p.Val779=
XM_011530829.2:c.1842G>A	XP_011529131.1:p.Val614=
XM_011530830.2:c.1842G>A	XP_011529132.1:p.Val614=
XM_011530831.2:c.1353G>A	XP_011529133.1:p.Val451=
XM_024452466.1:c.2334G>A	XP_024308234.1:p.Val778=
XR_001755735.2:n.2663G>A
XR_001755736.2:n.2663G>A
XR_001755737.2:n.2663G>A
XR_938370.3:n.2663G>A
NM_001146702.2:c.2136G>A	NP_001140174.1:p.Val712=
NM_001282622.3:c.2334G>A	NP_001269551.1:p.Val778=
NM_001353978.3:c.2337G>A	NP_001340907.1:p.Val779=
NM_001353979.2:c.2334G>A	NP_001340908.1:p.Val778=
NM_001353981.2:c.2337G>A	NP_001340910.1:p.Val779=
NM_001353982.2:c.2334G>A	NP_001340911.1:p.Val778=
NM_004187.5:c.2337G>A MANE Select	NP_004178.2:p.Val779=
NR_148672.2:n.2655G>A
NR_148673.2:n.2652G>A
NR_148674.2:n.2532G>A
NM_001353984.2:c.2337G>A	NP_001340913.1:p.Val779=