Canonical Allele Identifier: CA639393802

Gene: C1QTNF6

Linked Data

• dbSNP Id: rs1223352270
• gnomAD v2: 22-37581251-C-T
• gnomAD v4: 22-37185211-C-T
• MyVariant Identifiers: chr22:g.37581251C>T (hg19) ; chr22:g.37185211C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37185211C>T , CM000684.2:g.37185211C>T	GRCh38
NC_000022.10:g.37581251C>T , CM000684.1:g.37581251C>T	GRCh37
NC_000022.9:g.35911197C>T	NCBI36

Transcript Alleles

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