Canonical Allele Identifier: CA1318048
Community Standard Title: NM_014875.3(KIF14):c.346G>A (p.Glu116Lys)
Gene: KIF14 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.200618378C>T , CM000663.2:g.200618378C>T GRCh38
NC_000001.10:g.200587506C>T , CM000663.1:g.200587506C>T GRCh37
NC_000001.9:g.198854129C>T NCBI36
NG_042074.1:g.7357G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014875.3:c.346G>A MANE Select NP_055690.1:p.Glu116Lys
ENST00000367350.5:c.346G>A MANE Select ENSP00000356319.4:p.Glu116Lys
NM_001305792.1:c.-1040G>A NP_001292721.1:n.-1040G>A
NM_014875.2:c.346G>A NP_055690.1:p.Glu116Lys
ENST00000367350.4:c.346G>A ENSP00000356319.4:p.Glu116Lys
ENST00000614960.4:c.346G>A ENSP00000483069.1:p.Glu116Lys
XM_011510230.1:c.346G>A XP_011508532.1:p.Glu116Lys
XM_011510231.1:c.346G>A XP_011508533.1:p.Glu116Lys
XM_011510231.2:c.346G>A XP_011508533.1:p.Glu116Lys
XM_011510232.1:c.346G>A XP_011508534.1:p.Glu116Lys
XM_011510232.2:c.346G>A XP_011508534.1:p.Glu116Lys
XM_011510233.1:c.262G>A XP_011508535.1:p.Glu88Lys
XM_011510233.2:c.262G>A XP_011508535.1:p.Glu88Lys
XM_011510234.1:c.346G>A XP_011508536.1:p.Glu116Lys
XM_011510235.1:c.172+174G>A XP_011508537.1:n.172+174G>A
XM_011510235.2:c.172+174G>A XP_011508537.1:n.172+174G>A
XM_011510236.1:c.-1040G>A XP_011508538.1:n.-1040G>A
XM_017003005.1:c.346G>A XP_016858494.1:p.Glu116Lys
XM_017003006.1:c.217G>A XP_016858495.1:p.Glu73Lys
XM_017003007.1:c.-23-199G>A XP_016858496.1:n.-23-199G>A