Canonical Allele Identifier: CA10643109

Gene: IFT140

Linked Data

• ClinVar Variation Id: 318206
• ClinVar RCV Id: RCV000272226
• dbSNP Id: rs886051768
• gnomAD v4: 16-1589661-G-A
• MyVariant Identifiers: chr16:g.1639662G>A (hg19) ; chr16:g.1589661G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1589661G>A , CM000678.2:g.1589661G>A	GRCh38
NC_000016.9:g.1639662G>A , CM000678.1:g.1639662G>A	GRCh37
NC_000016.8:g.1579663G>A	NCBI36
NG_032783.1:g.27448C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.754C>T MANE Select	ENSP00000406012.2:p.Leu252Phe
ENST00000397417.6:c.329-5241C>T	ENSP00000380562.2:n.329-5241C>T
ENST00000426508.6:c.754C>T	ENSP00000406012.2:p.Leu252Phe
ENST00000439987.6:n.815C>T
NM_014714.3:c.754C>T	NP_055529.2:p.Leu252Phe
XM_005255725.3:c.754C>T	XP_005255782.1:p.Leu252Phe
XM_005255726.2:c.754C>T	XP_005255783.1:p.Leu252Phe
XM_006720989.2:c.754C>T	XP_006721052.1:p.Leu252Phe
XM_006720990.2:c.754C>T	XP_006721053.1:p.Leu252Phe
XM_006720991.2:c.754C>T	XP_006721054.1:p.Leu252Phe
XM_011522766.1:c.754C>T	XP_011521068.1:p.Leu252Phe
XM_011522768.1:c.754C>T	XP_011521070.1:p.Leu252Phe
XM_011522769.1:c.754C>T	XP_011521071.1:p.Leu252Phe
XM_011522771.1:c.754C>T	XP_011521073.1:p.Leu252Phe
XM_011522772.1:c.754C>T	XP_011521074.1:p.Leu252Phe
NR_135176.1:n.59+9076G>A
XM_005255725.5:c.754C>T	XP_005255782.1:p.Leu252Phe
XM_005255726.4:c.754C>T	XP_005255783.1:p.Leu252Phe
XM_006720990.3:c.754C>T	XP_006721053.1:p.Leu252Phe
XM_006720991.3:c.754C>T	XP_006721054.1:p.Leu252Phe
XM_011522766.3:c.754C>T	XP_011521068.1:p.Leu252Phe
XM_011522769.3:c.754C>T	XP_011521071.1:p.Leu252Phe
XM_011522771.3:c.754C>T	XP_011521073.1:p.Leu252Phe
XM_011522772.3:c.754C>T	XP_011521074.1:p.Leu252Phe
XM_017023910.1:c.754C>T	XP_016879399.1:p.Leu252Phe
XM_017023911.1:c.-944C>T	XP_016879400.1:n.-944C>T
NM_014714.4:c.754C>T MANE Select	NP_055529.2:p.Leu252Phe