Canonical Allele Identifier: CA7813008

Gene: IFT140

Linked Data

• dbSNP Id: rs149277718
• ExAC: 16:1570097 C / A
• gnomAD v2: 16-1570097-C-A
• gnomAD v4: 16-1520096-C-A
• MyVariant Identifiers: chr16:g.1570097C>A (hg19) ; chr16:g.1570097_1570098delinsAG (hg19) ; chr16:g.1520096C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520096C>A , CM000678.2:g.1520096C>A	GRCh38
NC_000016.9:g.1570097C>A , CM000678.1:g.1570097C>A	GRCh37
NC_000016.8:g.1510098C>A	NCBI36
NG_032783.1:g.97013G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3873+35G>T MANE Select	ENSP00000406012.2:n.3873+35G>T
ENST00000361339.9:c.1455+35G>T	ENSP00000354895.5:n.1455+35G>T
ENST00000397417.6:c.*2311+35G>T	ENSP00000380562.2:n.*2311+35G>T
ENST00000426508.6:c.3873+35G>T	ENSP00000406012.2:n.3873+35G>T
ENST00000565298.5:n.3697+35G>T
NM_014714.3:c.3873+35G>T	NP_055529.2:n.3873+35G>T
XM_006720989.2:c.3873+35G>T	XP_006721052.1:n.3873+35G>T
XM_006720990.2:c.3873+35G>T	XP_006721053.1:n.3873+35G>T
XM_006720991.2:c.3873+35G>T	XP_006721054.1:n.3873+35G>T
XM_006720992.2:c.1506+35G>T	XP_006721055.1:n.1506+35G>T
XM_011522766.1:c.3627+35G>T	XP_011521068.1:n.3627+35G>T
XM_011522767.1:c.2898+35G>T	XP_011521069.1:n.2898+35G>T
XM_006720990.3:c.3873+35G>T	XP_006721053.1:n.3873+35G>T
XM_006720991.3:c.3873+35G>T	XP_006721054.1:n.3873+35G>T
XM_006720992.3:c.1506+35G>T	XP_006721055.1:n.1506+35G>T
XM_011522766.3:c.3627+35G>T	XP_011521068.1:n.3627+35G>T
XM_011522767.2:c.2898+35G>T	XP_011521069.1:n.2898+35G>T
XM_017023910.1:c.3873+35G>T	XP_016879399.1:n.3873+35G>T
XM_017023911.1:c.2058+35G>T	XP_016879400.1:n.2058+35G>T
NM_014714.4:c.3873+35G>T MANE Select	NP_055529.2:n.3873+35G>T