Canonical Allele Identifier: CA9594099
Community Standard Title: NM_004977.3(KCNC3):c.2139T>C (p.Tyr713=)
Gene: KCNC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50320624A>G , CM000681.2:g.50320624A>G GRCh38
NC_000019.9:g.50823881A>G , CM000681.1:g.50823881A>G GRCh37
NC_000019.8:g.55515693A>G NCBI36
NG_008134.2:g.13754T>C

Transcript Alleles

HGVS Amino-acid Change
NM_004977.3:c.2139T>C MANE Select NP_004968.2:p.Tyr713=
ENST00000477616.2:c.2139T>C MANE Select ENSP00000434241.1:p.Tyr713=
NM_001372305.1:c.1911T>C NP_001359234.1:p.Tyr637=
NM_004977.2:c.2139T>C NP_004968.2:p.Tyr713=
NR_110912.1:n.208T>C
NR_110912.2:n.229T>C
ENST00000376959.6:c.2139T>C ENSP00000366158.2:p.Tyr713=
ENST00000474951.1:c.87T>C ENSP00000432438.1:p.Tyr29=
ENST00000477616.1:c.2139T>C ENSP00000434241.1:p.Tyr713=
ENST00000670667.1:c.2139T>C ENSP00000499301.1:p.Tyr713=
XM_006723203.2:c.2139T>C XP_006723266.1:p.Tyr713=
XM_011526925.1:c.2139T>C XP_011525227.1:p.Tyr713=
XM_011526926.1:c.2139T>C XP_011525228.1:p.Tyr713=
XM_011526927.1:c.2139T>C XP_011525229.1:p.Tyr713=
XM_011526928.1:c.2139T>C XP_011525230.1:p.Tyr713=