Canonical Allele Identifier: CA620700915

Gene: IFT140

Linked Data

• dbSNP Id: rs1478509706
• gnomAD v2: 16-1570068-C-G
• gnomAD v4: 16-1520067-C-G
• MyVariant Identifiers: chr16:g.1570068C>G (hg19) ; chr16:g.1520067C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520067C>G , CM000678.2:g.1520067C>G	GRCh38
NC_000016.9:g.1570068C>G , CM000678.1:g.1570068C>G	GRCh37
NC_000016.8:g.1510069C>G	NCBI36
NG_032783.1:g.97042G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000426508.7:c.3874-20G>C MANE Select	ENSP00000406012.2:n.3874-20G>C
ENST00000361339.9:c.1456-20G>C	ENSP00000354895.5:n.1456-20G>C
ENST00000397417.6:c.*2312-20G>C	ENSP00000380562.2:n.*2312-20G>C
ENST00000426508.6:c.3874-20G>C	ENSP00000406012.2:n.3874-20G>C
ENST00000565298.5:n.3698-20G>C
NM_014714.3:c.3874-20G>C	NP_055529.2:n.3874-20G>C
XM_006720989.2:c.3874-20G>C	XP_006721052.1:n.3874-20G>C
XM_006720990.2:c.3874-20G>C	XP_006721053.1:n.3874-20G>C
XM_006720991.2:c.3874-20G>C	XP_006721054.1:n.3874-20G>C
XM_006720992.2:c.1507-20G>C	XP_006721055.1:n.1507-20G>C
XM_011522766.1:c.3628-20G>C	XP_011521068.1:n.3628-20G>C
XM_011522767.1:c.2899-20G>C	XP_011521069.1:n.2899-20G>C
XM_006720990.3:c.3874-20G>C	XP_006721053.1:n.3874-20G>C
XM_006720991.3:c.3874-20G>C	XP_006721054.1:n.3874-20G>C
XM_006720992.3:c.1507-20G>C	XP_006721055.1:n.1507-20G>C
XM_011522766.3:c.3628-20G>C	XP_011521068.1:n.3628-20G>C
XM_011522767.2:c.2899-20G>C	XP_011521069.1:n.2899-20G>C
XM_017023910.1:c.3874-20G>C	XP_016879399.1:n.3874-20G>C
XM_017023911.1:c.2059-20G>C	XP_016879400.1:n.2059-20G>C
NM_014714.4:c.3874-20G>C MANE Select	NP_055529.2:n.3874-20G>C