Canonical Allele Identifier: CA411432275
Gene: C1QTNF6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.37185370A>C , CM000684.2:g.37185370A>C GRCh38
NC_000022.10:g.37581410A>C , CM000684.1:g.37581410A>C GRCh37
NC_000022.9:g.35911356A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000337843.7:c.137T>G MANE Select ENSP00000338812.2:p.Leu46Arg
ENST00000337843.6:c.137T>G ENSP00000338812.2:p.Leu46Arg
ENST00000397110.6:c.137T>G ENSP00000380299.2:p.Leu46Arg
ENST00000434784.1:c.137T>G ENSP00000399243.1:p.Leu46Arg
ENST00000470655.5:n.3627T>G
ENST00000493023.1:n.579T>G
NM_031910.3:c.137T>G NP_114116.3:p.Leu46Arg
NM_182486.1:c.137T>G NP_872292.1:p.Leu46Arg
XM_006724125.2:c.80T>G XP_006724188.1:p.Leu27Arg
XM_011529857.1:c.80T>G XP_011528159.1:p.Leu27Arg
NM_001365878.1:c.80T>G NP_001352807.1:p.Leu27Arg
XM_011529857.2:c.80T>G XP_011528159.1:p.Leu27Arg
XM_017028569.1:c.137T>G XP_016884058.1:p.Leu46Arg
XM_024452150.1:c.137T>G XP_024307918.1:p.Leu46Arg
XM_024452151.1:c.137T>G XP_024307919.1:p.Leu46Arg
XM_024452152.1:c.137T>G XP_024307920.1:p.Leu46Arg
XM_024452153.1:c.137T>G XP_024307921.1:p.Leu46Arg
XM_024452154.1:c.137T>G XP_024307922.1:p.Leu46Arg
XM_024452155.1:c.80T>G XP_024307923.1:p.Leu27Arg
NM_031910.4:c.137T>G MANE Select NP_114116.3:p.Leu46Arg
NM_182486.2:c.137T>G NP_872292.1:p.Leu46Arg