Canonical Allele Identifier: CA399980675
Gene: KANSL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 514645
ClinVar RCV Id: RCV000607548

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.46171341G>A , CM000679.2:g.46171341G>A GRCh38
NC_000017.10:g.44248707G>A , CM000679.1:g.44248707G>A GRCh37
NC_000017.9:g.41604484G>A NCBI36
NG_032784.1:g.59034C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000432791.7:c.803C>T MANE Select ENSP00000387393.3:p.Ser268Phe
ENST00000571698.2:c.803C>T ENSP00000459330.2:p.Ser268Phe
ENST00000572904.6:c.803C>T ENSP00000461484.1:p.Ser268Phe
ENST00000574590.6:c.803C>T ENSP00000461812.2:p.Ser268Phe
ENST00000574655.6:n.1057C>T
ENST00000575318.6:c.803C>T ENSP00000461299.1:p.Ser268Phe
ENST00000638269.1:n.1047C>T
ENST00000638275.1:c.803C>T ENSP00000492576.1:p.Ser268Phe
ENST00000638902.1:n.907C>T
ENST00000639099.1:n.1053C>T
ENST00000639150.1:c.23+52330C>T ENSP00000491906.1:n.23+52330C>T
ENST00000639356.1:n.1053C>T
ENST00000639375.1:n.1041C>T
ENST00000639531.1:c.803C>T ENSP00000491765.1:p.Ser268Phe
ENST00000639853.1:n.76C>T
ENST00000648792.1:c.803C>T ENSP00000497628.1:p.Ser268Phe
ENST00000262419.10:c.803C>T ENSP00000262419.6:p.Ser268Phe
ENST00000432791.5:c.803C>T ENSP00000387393.2:p.Ser268Phe
ENST00000572904.5:c.803C>T ENSP00000461484.1:p.Ser268Phe
ENST00000574590.5:c.803C>T ENSP00000461812.1:p.Ser268Phe
ENST00000575318.5:c.803C>T ENSP00000461299.1:p.Ser268Phe
NM_001193465.1:c.803C>T NP_001180394.1:p.Ser268Phe
NM_001193466.1:c.803C>T NP_001180395.1:p.Ser268Phe
NM_015443.3:c.803C>T NP_056258.1:p.Ser268Phe
XM_006721823.1:c.803C>T XP_006721886.1:p.Ser268Phe
XM_006721824.2:c.803C>T XP_006721887.1:p.Ser268Phe
XM_011524628.1:c.803C>T XP_011522930.1:p.Ser268Phe
XM_011524629.1:c.803C>T XP_011522931.1:p.Ser268Phe
XM_011524630.1:c.803C>T XP_011522932.1:p.Ser268Phe
XM_011524631.1:c.803C>T XP_011522933.1:p.Ser268Phe
XM_006721823.2:c.803C>T XP_006721886.1:p.Ser268Phe
XM_006721824.4:c.803C>T XP_006721887.1:p.Ser268Phe
XM_011524628.3:c.803C>T XP_011522930.1:p.Ser268Phe
XM_011524629.3:c.803C>T XP_011522931.1:p.Ser268Phe
XM_011524630.3:c.803C>T XP_011522932.1:p.Ser268Phe
XM_011524631.3:c.803C>T XP_011522933.1:p.Ser268Phe
XM_017024488.2:c.803C>T XP_016879977.1:p.Ser268Phe
XM_017024489.1:c.803C>T XP_016879978.1:p.Ser268Phe
NM_001193466.2:c.803C>T NP_001180395.1:p.Ser268Phe
NM_015443.4:c.803C>T MANE Select NP_056258.1:p.Ser268Phe
NM_001193465.2:c.803C>T NP_001180394.1:p.Ser268Phe
NM_001379198.1:c.803C>T NP_001366127.1:p.Ser268Phe