Canonical Allele Identifier: CA514767862
Gene: C1QTNF6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.37581328T>C (hg19)

Genomic Alleles

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

Transcript Alleles

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