Canonical Allele Identifier: CA2656502070

Gene: C1QTNF6

Linked Data

• gnomAD v4: 22-37185165-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37185165T>G , CM000684.2:g.37185165T>G	GRCh38
NC_000022.10:g.37581205T>G , CM000684.1:g.37581205T>G	GRCh37
NC_000022.9:g.35911151T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337843.7:c.289+53A>C MANE Select	ENSP00000338812.2:n.289+53A>C
ENST00000337843.6:c.289+53A>C	ENSP00000338812.2:n.289+53A>C
ENST00000397110.6:c.289+53A>C	ENSP00000380299.2:n.289+53A>C
ENST00000434784.1:c.289+53A>C	ENSP00000399243.1:n.289+53A>C
ENST00000470655.5:n.3779+53A>C
ENST00000493023.1:n.731+53A>C
NM_031910.3:c.289+53A>C	NP_114116.3:n.289+53A>C
NM_182486.1:c.289+53A>C	NP_872292.1:n.289+53A>C
XM_006724125.2:c.232+53A>C	XP_006724188.1:n.232+53A>C
XM_011529857.1:c.232+53A>C	XP_011528159.1:n.232+53A>C
NM_001365878.1:c.232+53A>C	NP_001352807.1:n.232+53A>C
XM_011529857.2:c.232+53A>C	XP_011528159.1:n.232+53A>C
XM_017028569.1:c.289+53A>C	XP_016884058.1:n.289+53A>C
XM_024452150.1:c.289+53A>C	XP_024307918.1:n.289+53A>C
XM_024452151.1:c.289+53A>C	XP_024307919.1:n.289+53A>C
XM_024452152.1:c.289+53A>C	XP_024307920.1:n.289+53A>C
XM_024452153.1:c.289+53A>C	XP_024307921.1:n.289+53A>C
XM_024452154.1:c.289+53A>C	XP_024307922.1:n.289+53A>C
XM_024452155.1:c.232+53A>C	XP_024307923.1:n.232+53A>C
NM_031910.4:c.289+53A>C MANE Select	NP_114116.3:n.289+53A>C
NM_182486.2:c.289+53A>C	NP_872292.1:n.289+53A>C