Canonical Allele Identifier: CA374158864

Gene: CCDC180 SUGT1P4-STRA6LP-CCDC180

Linked Data

• dbSNP Id: rs1826152979
• gnomAD v3: 9-97343520-C-G
• gnomAD v4: 9-97343520-C-G
• MyVariant Identifiers: chr9:g.100105802C>G (hg19) ; chr9:g.97343520C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97343520C>G , CM000671.2:g.97343520C>G	GRCh38
NC_000009.11:g.100105802C>G , CM000671.1:g.100105802C>G	GRCh37
NC_000009.10:g.99145623C>G	NCBI36
NG_052792.1:g.41217C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529487.3:c.2455C>G (CCDC180) MANE Select	ENSP00000434727.2:p.Gln819Glu
ENST00000460482.6:n.2789C>G (CCDC180)
ENST00000494917.6:n.2658C>G (CCDC180)
ENST00000528678.1:n.551C>G (CCDC180)
ENST00000529487.1:c.2587C>G (CCDC180)	ENSP00000434727.1:p.Gln863Glu
ENST00000530011.1:n.236-5591C>G (CCDC180)
NM_020893.2:c.2587C>G (CCDC180)	NP_065944.2:p.Gln863Glu
NR_036527.1:n.4010C>G (SUGT1P4-STRA6LP-CCDC180)
NR_036528.1:n.4010C>G (SUGT1P4-STRA6LP-CCDC180)
NR_036529.1:n.3570C>G (SUGT1P4-STRA6LP-CCDC180)
NM_001348010.1:c.2578C>G (CCDC180)	NP_001334939.1:p.Gln860Glu
NM_020893.3:c.2587C>G (CCDC180)	NP_065944.2:p.Gln863Glu
NM_001348010.2:c.2578C>G (CCDC180)	NP_001334939.1:p.Gln860Glu
NM_020893.4:c.2587C>G (CCDC180)	NP_065944.2:p.Gln863Glu
NM_001348010.4:c.2446C>G (CCDC180)	NP_001334939.2:p.Gln816Glu
NM_020893.6:c.2455C>G (CCDC180) MANE Select	NP_065944.3:p.Gln819Glu