Canonical Allele Identifier: CA7814455
Community Standard Title: NM_014714.4(IFT140):c.1010-10C>T
Gene: IFT140 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1586285G>A , CM000678.2:g.1586285G>A GRCh38
NC_000016.9:g.1636286G>A , CM000678.1:g.1636286G>A GRCh37
NC_000016.8:g.1576287G>A NCBI36
NG_032783.1:g.30824C>T

Transcript Alleles

HGVS Amino-acid Change
NM_014714.4:c.1010-10C>T MANE Select NP_055529.2:n.1010-10C>T
ENST00000426508.7:c.1010-10C>T MANE Select ENSP00000406012.2:n.1010-10C>T
NM_014714.3:c.1010-10C>T NP_055529.2:n.1010-10C>T
NR_135176.1:n.59+5700G>A
ENST00000397417.6:c.329-1865C>T ENSP00000380562.2:n.329-1865C>T
ENST00000426508.6:c.1010-10C>T ENSP00000406012.2:n.1010-10C>T
ENST00000439987.6:n.1071-10C>T
XM_005255725.3:c.1010-10C>T XP_005255782.1:n.1010-10C>T
XM_005255725.5:c.1010-10C>T XP_005255782.1:n.1010-10C>T
XM_005255726.2:c.1010-10C>T XP_005255783.1:n.1010-10C>T
XM_005255726.4:c.1010-10C>T XP_005255783.1:n.1010-10C>T
XM_006720989.2:c.1010-10C>T XP_006721052.1:n.1010-10C>T
XM_006720990.2:c.1010-10C>T XP_006721053.1:n.1010-10C>T
XM_006720990.3:c.1010-10C>T XP_006721053.1:n.1010-10C>T
XM_006720991.2:c.1010-10C>T XP_006721054.1:n.1010-10C>T
XM_006720991.3:c.1010-10C>T XP_006721054.1:n.1010-10C>T
XM_011522766.1:c.1010-10C>T XP_011521068.1:n.1010-10C>T
XM_011522766.3:c.1010-10C>T XP_011521068.1:n.1010-10C>T
XM_011522767.1:c.35-10C>T XP_011521069.1:n.35-10C>T
XM_011522767.2:c.35-10C>T XP_011521069.1:n.35-10C>T
XM_011522768.1:c.1010-10C>T XP_011521070.1:n.1010-10C>T
XM_011522769.1:c.1010-10C>T XP_011521071.1:n.1010-10C>T
XM_011522769.3:c.1010-10C>T XP_011521071.1:n.1010-10C>T
XM_011522771.1:c.1010-10C>T XP_011521073.1:n.1010-10C>T
XM_011522771.3:c.1010-10C>T XP_011521073.1:n.1010-10C>T
XM_011522772.1:c.1010-10C>T XP_011521074.1:n.1010-10C>T
XM_011522772.3:c.1010-10C>T XP_011521074.1:n.1010-10C>T
XM_017023910.1:c.1010-10C>T XP_016879399.1:n.1010-10C>T
XM_017023911.1:c.-688-10C>T XP_016879400.1:n.-688-10C>T