Canonical Allele Identifier: CA578229236

Gene: IFT56

Linked Data

• dbSNP Id: rs1184815779
• gnomAD v2: 7-138841845-G-A
• gnomAD v3: 7-139157099-G-A
• gnomAD v4: 7-139157099-G-A
• MyVariant Identifiers: chr7:g.138841845G>A (hg19) ; chr7:g.139157099G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.139157099G>A , CM000669.2:g.139157099G>A	GRCh38
NC_000007.13:g.138841845G>A , CM000669.1:g.138841845G>A	GRCh37
NC_000007.12:g.138492385G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000343187.8:c.625-3849G>A	ENSP00000339135.4:n.625-3849G>A
ENST00000430935.5:c.718-3849G>A	ENSP00000410655.1:n.718-3849G>A
ENST00000464848.5:c.718-3849G>A MANE Select	ENSP00000419279.1:n.718-3849G>A
ENST00000474035.6:c.718-3849G>A	ENSP00000443253.1:n.718-3849G>A
ENST00000476296.1:c.*471-3849G>A	ENSP00000419639.1:n.*471-3849G>A
ENST00000478836.6:c.400-3849G>A	ENSP00000419178.2:n.400-3849G>A
ENST00000481482.5:n.796-3849G>A
ENST00000495038.5:c.400-8033G>A	ENSP00000418788.1:n.400-8033G>A
NM_001144920.2:c.718-3849G>A	NP_001138392.1:n.718-3849G>A
NM_001144923.2:c.625-3849G>A	NP_001138395.1:n.625-3849G>A
NM_001287512.1:c.400-8033G>A	NP_001274441.1:n.400-8033G>A
NM_001287513.1:c.403-3849G>A	NP_001274442.1:n.403-3849G>A
NM_024926.3:c.718-3849G>A	NP_079202.2:n.718-3849G>A
XM_005250608.3:c.298-3849G>A	XP_005250665.1:n.298-3849G>A
XM_006716135.2:c.400-3849G>A	XP_006716198.1:n.400-3849G>A
XM_011516584.1:c.718-3849G>A	XP_011514886.1:n.718-3849G>A
NM_001318333.1:c.298-3849G>A	NP_001305262.1:n.298-3849G>A
NM_001321740.1:c.718-3849G>A	NP_001308669.1:n.718-3849G>A
NM_001321741.1:c.400-3849G>A	NP_001308670.1:n.400-3849G>A
NM_001321742.1:c.718-3849G>A	NP_001308671.1:n.718-3849G>A
NM_024926.4:c.718-3849G>A MANE Select	NP_079202.2:n.718-3849G>A
NM_001144923.3:c.625-3849G>A	NP_001138395.1:n.625-3849G>A
NM_001287512.2:c.400-8033G>A	NP_001274441.1:n.400-8033G>A
NM_001287513.2:c.403-3849G>A	NP_001274442.1:n.403-3849G>A
NM_001318333.2:c.298-3849G>A	NP_001305262.1:n.298-3849G>A
NM_001321740.2:c.718-3849G>A	NP_001308669.1:n.718-3849G>A
NM_001321741.2:c.400-3849G>A	NP_001308670.1:n.400-3849G>A
NM_001144920.3:c.718-3849G>A	NP_001138392.1:n.718-3849G>A
NM_001321742.2:c.718-3849G>A	NP_001308671.1:n.718-3849G>A