Canonical Allele Identifier: CA5906853

Gene: KCNC1

Linked Data

• ClinVar Variation Id: 542114
• ClinVar RCV Id: RCV000652492 ; RCV003222086
• dbSNP Id: rs368328020
• ExAC: 11:17801151 C / T
• gnomAD v2: 11-17801151-C-T
• gnomAD v3: 11-17779604-C-T
• gnomAD v4: 11-17779604-C-T
• MyVariant Identifiers: chr11:g.17801151C>T (hg19) ; chr11:g.17779604C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17779604C>T , CM000673.2:g.17779604C>T	GRCh38
NC_000011.9:g.17801151C>T , CM000673.1:g.17801151C>T	GRCh37
NC_000011.8:g.17757727C>T	NCBI36
NG_041827.1:g.48657C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265969.8:c.1653C>T MANE Select	ENSP00000265969.7:p.Thr551=
ENST00000638366.1:c.371C>T	ENSP00000491016.1:n.371C>T
ENST00000638395.1:n.354C>T
ENST00000638825.1:c.190C>T
ENST00000639325.2:c.1653C>T	ENSP00000492663.2:p.Thr551=
ENST00000639495.1:c.408+7006C>T
ENST00000640318.2:c.1653C>T	ENSP00000491189.2:p.Thr551=
ENST00000640461.1:c.72+7006C>T
ENST00000640909.2:c.1653C>T	ENSP00000491644.2:p.Thr551=
ENST00000675775.1:c.1653C>T	ENSP00000502716.1:p.Thr551=
ENST00000265969.6:c.1653C>T	ENSP00000265969.6:p.Thr551=
ENST00000525802.1:n.429C>T
ENST00000526029.1:n.433C>T
NM_001112741.1:c.1653C>T	NP_001106212.1:p.Thr551=
XM_011520078.1:c.1504+7006C>T	XP_011518380.1:n.1504+7006C>T
XM_011520079.1:c.1504+7006C>T	XP_011518381.1:n.1504+7006C>T
NM_001112741.2:c.1653C>T MANE Select	NP_001106212.1:p.Thr551=