Canonical Allele Identifier: CA9594265
Community Standard Title: NM_004977.3(KCNC3):c.1255G>A (p.Val419Ile)
Gene: KCNC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50323698C>T , CM000681.2:g.50323698C>T GRCh38
NC_000019.9:g.50826955C>T , CM000681.1:g.50826955C>T GRCh37
NC_000019.8:g.55518767C>T NCBI36
NG_008134.2:g.10680G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004977.3:c.1255G>A MANE Select NP_004968.2:p.Val419Ile
ENST00000477616.2:c.1255G>A MANE Select ENSP00000434241.1:p.Val419Ile
NM_001372305.1:c.1027G>A NP_001359234.1:p.Val343Ile
NM_004977.2:c.1255G>A NP_004968.2:p.Val419Ile
NR_110912.1:n.48-2914G>A
NR_110912.2:n.69-2914G>A
ENST00000376959.6:c.1255G>A ENSP00000366158.2:p.Val419Ile
ENST00000474951.1:c.-74-2914G>A ENSP00000432438.1:n.-74-2914G>A
ENST00000477616.1:c.1255G>A ENSP00000434241.1:p.Val419Ile
ENST00000670667.1:c.1255G>A ENSP00000499301.1:p.Val419Ile
XM_006723203.2:c.1255G>A XP_006723266.1:p.Val419Ile
XM_011526925.1:c.1255G>A XP_011525227.1:p.Val419Ile
XM_011526926.1:c.1255G>A XP_011525228.1:p.Val419Ile
XM_011526927.1:c.1255G>A XP_011525229.1:p.Val419Ile
XM_011526928.1:c.1255G>A XP_011525230.1:p.Val419Ile