Canonical Allele Identifier: CA514767864

Gene: C1QTNF6

Linked Data

• dbSNP Id: rs1294666544
• gnomAD v2: 22-37581328-T-G
• gnomAD v3: 22-37185288-T-G
• gnomAD v4: 22-37185288-T-G
• MyVariant Identifiers: chr22:g.37581328T>G (hg19) ; chr22:g.37185288T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37185288T>G , CM000684.2:g.37185288T>G	GRCh38
NC_000022.10:g.37581328T>G , CM000684.1:g.37581328T>G	GRCh37
NC_000022.9:g.35911274T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000337843.7:c.219A>C MANE Select	ENSP00000338812.2:p.Ser73=
ENST00000337843.6:c.219A>C	ENSP00000338812.2:p.Ser73=
ENST00000397110.6:c.219A>C	ENSP00000380299.2:p.Ser73=
ENST00000434784.1:c.219A>C	ENSP00000399243.1:p.Ser73=
ENST00000470655.5:n.3709A>C
ENST00000493023.1:n.661A>C
NM_031910.3:c.219A>C	NP_114116.3:p.Ser73=
NM_182486.1:c.219A>C	NP_872292.1:p.Ser73=
XM_006724125.2:c.162A>C	XP_006724188.1:p.Ser54=
XM_011529857.1:c.162A>C	XP_011528159.1:p.Ser54=
NM_001365878.1:c.162A>C	NP_001352807.1:p.Ser54=
XM_011529857.2:c.162A>C	XP_011528159.1:p.Ser54=
XM_017028569.1:c.219A>C	XP_016884058.1:p.Ser73=
XM_024452150.1:c.219A>C	XP_024307918.1:p.Ser73=
XM_024452151.1:c.219A>C	XP_024307919.1:p.Ser73=
XM_024452152.1:c.219A>C	XP_024307920.1:p.Ser73=
XM_024452153.1:c.219A>C	XP_024307921.1:p.Ser73=
XM_024452154.1:c.219A>C	XP_024307922.1:p.Ser73=
XM_024452155.1:c.162A>C	XP_024307923.1:p.Ser54=
NM_031910.4:c.219A>C MANE Select	NP_114116.3:p.Ser73=
NM_182486.2:c.219A>C	NP_872292.1:p.Ser73=