Canonical Allele Identifier: CA5906849

Gene: KCNC1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17779570G>A , CM000673.2:g.17779570G>A	GRCh38
NC_000011.9:g.17801117G>A , CM000673.1:g.17801117G>A	GRCh37
NC_000011.8:g.17757693G>A	NCBI36
NG_041827.1:g.48623G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001112741.2:c.1619G>A MANE Select	NP_001106212.1:p.Arg540His
ENST00000265969.8:c.1619G>A MANE Select	ENSP00000265969.7:p.Arg540His
NM_001112741.1:c.1619G>A	NP_001106212.1:p.Arg540His
ENST00000265969.6:c.1619G>A	ENSP00000265969.6:p.Arg540His
ENST00000525802.1:n.395G>A
ENST00000526029.1:n.399G>A
ENST00000638366.1:c.337G>A	ENSP00000491016.1:n.337G>A
ENST00000638395.1:n.320G>A
ENST00000638825.1:c.156G>A
ENST00000639325.2:c.1619G>A	ENSP00000492663.2:p.Arg540His
ENST00000639495.1:c.408+6972G>A
ENST00000640318.2:c.1619G>A	ENSP00000491189.2:p.Arg540His
ENST00000640461.1:c.72+6972G>A
ENST00000640909.2:c.1619G>A	ENSP00000491644.2:p.Arg540His
ENST00000675775.1:c.1619G>A	ENSP00000502716.1:p.Arg540His
XM_011520078.1:c.1504+6972G>A	XP_011518380.1:n.1504+6972G>A
XM_011520079.1:c.1504+6972G>A	XP_011518381.1:n.1504+6972G>A