Canonical Allele Identifier: CA411431976

Gene: C1QTNF6

Linked Data

• COSMIC: COSM1641538
• MyVariant Identifiers: chr22:g.37581267T>A (hg19) ; chr22:g.37185227T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37185227T>A , CM000684.2:g.37185227T>A	GRCh38
NC_000022.10:g.37581267T>A , CM000684.1:g.37581267T>A	GRCh37
NC_000022.9:g.35911213T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337843.7:c.280A>T MANE Select	ENSP00000338812.2:p.Ile94Phe
ENST00000337843.6:c.280A>T	ENSP00000338812.2:p.Ile94Phe
ENST00000397110.6:c.280A>T	ENSP00000380299.2:p.Ile94Phe
ENST00000434784.1:c.280A>T	ENSP00000399243.1:p.Ile94Phe
ENST00000470655.5:n.3770A>T
ENST00000493023.1:n.722A>T
NM_031910.3:c.280A>T	NP_114116.3:p.Ile94Phe
NM_182486.1:c.280A>T	NP_872292.1:p.Ile94Phe
XM_006724125.2:c.223A>T	XP_006724188.1:p.Ile75Phe
XM_011529857.1:c.223A>T	XP_011528159.1:p.Ile75Phe
NM_001365878.1:c.223A>T	NP_001352807.1:p.Ile75Phe
XM_011529857.2:c.223A>T	XP_011528159.1:p.Ile75Phe
XM_017028569.1:c.280A>T	XP_016884058.1:p.Ile94Phe
XM_024452150.1:c.280A>T	XP_024307918.1:p.Ile94Phe
XM_024452151.1:c.280A>T	XP_024307919.1:p.Ile94Phe
XM_024452152.1:c.280A>T	XP_024307920.1:p.Ile94Phe
XM_024452153.1:c.280A>T	XP_024307921.1:p.Ile94Phe
XM_024452154.1:c.280A>T	XP_024307922.1:p.Ile94Phe
XM_024452155.1:c.223A>T	XP_024307923.1:p.Ile75Phe
NM_031910.4:c.280A>T MANE Select	NP_114116.3:p.Ile94Phe
NM_182486.2:c.280A>T	NP_872292.1:p.Ile94Phe