Canonical Allele Identifier: CA493031131

Gene: IFT140

Linked Data

• dbSNP Id: rs2040117299
• gnomAD v4: 16-1510879-G-A
• MyVariant Identifiers: chr16:g.1560880G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1510879G>A , CM000678.2:g.1510879G>A	GRCh38
NC_000016.9:g.1560880G>A , CM000678.1:g.1560880G>A	GRCh37
NC_000016.8:g.1500881G>A	NCBI36
NG_032783.1:g.106230C>T
NG_050910.1:g.22536G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.*65C>T MANE Select	ENSP00000406012.2:n.*65C>T
ENST00000361339.9:c.*65C>T	ENSP00000354895.5:n.*65C>T
ENST00000397417.6:c.*2892C>T	ENSP00000380562.2:n.*2892C>T
ENST00000426508.6:c.*65C>T	ENSP00000406012.2:n.*65C>T
ENST00000565298.5:n.4278C>T
NM_014714.3:c.*65C>T	NP_055529.2:n.*65C>T
XM_006720989.2:c.*65C>T	XP_006721052.1:n.*65C>T
XM_006720990.2:c.*65C>T	XP_006721053.1:n.*65C>T
XM_006720991.2:c.*65C>T	XP_006721054.1:n.*65C>T
XM_006720992.2:c.*65C>T	XP_006721055.1:n.*65C>T
XM_011522766.1:c.*65C>T	XP_011521068.1:n.*65C>T
XM_011522767.1:c.*65C>T	XP_011521069.1:n.*65C>T
XM_006720990.3:c.*65C>T	XP_006721053.1:n.*65C>T
XM_006720991.3:c.*65C>T	XP_006721054.1:n.*65C>T
XM_006720992.3:c.*65C>T	XP_006721055.1:n.*65C>T
XM_011522766.3:c.*65C>T	XP_011521068.1:n.*65C>T
XM_011522767.2:c.*65C>T	XP_011521069.1:n.*65C>T
XM_017023910.1:c.*65C>T	XP_016879399.1:n.*65C>T
XM_017023911.1:c.*65C>T	XP_016879400.1:n.*65C>T
NM_014714.4:c.*65C>T MANE Select	NP_055529.2:n.*65C>T