Canonical Allele Identifier: CA379814078

Gene: KCNC1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17779489C>T , CM000673.2:g.17779489C>T	GRCh38
NC_000011.9:g.17801036C>T , CM000673.1:g.17801036C>T	GRCh37
NC_000011.8:g.17757612C>T	NCBI36
NG_041827.1:g.48542C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001112741.2:c.1538C>T MANE Select	NP_001106212.1:p.Ala513Val
ENST00000265969.8:c.1538C>T MANE Select	ENSP00000265969.7:p.Ala513Val
NM_001112741.1:c.1538C>T	NP_001106212.1:p.Ala513Val
ENST00000265969.6:c.1538C>T	ENSP00000265969.6:p.Ala513Val
ENST00000525802.1:n.314C>T
ENST00000526029.1:n.318C>T
ENST00000638366.1:c.256C>T	ENSP00000491016.1:n.256C>T
ENST00000638395.1:n.239C>T
ENST00000638825.1:c.75C>T
ENST00000639325.2:c.1538C>T	ENSP00000492663.2:p.Ala513Val
ENST00000639495.1:c.408+6891C>T
ENST00000640318.2:c.1538C>T	ENSP00000491189.2:p.Ala513Val
ENST00000640461.1:c.72+6891C>T
ENST00000640909.2:c.1538C>T	ENSP00000491644.2:p.Ala513Val
ENST00000675775.1:c.1538C>T	ENSP00000502716.1:p.Ala513Val
XM_011520078.1:c.1504+6891C>T	XP_011518380.1:n.1504+6891C>T
XM_011520079.1:c.1504+6891C>T	XP_011518381.1:n.1504+6891C>T