Canonical Allele Identifier: CA466158521

Gene: CCDC180 SUGT1P4-STRA6LP-CCDC180

Linked Data

• dbSNP Id: rs1826149346
• gnomAD v3: 9-97343450-T-C
• gnomAD v4: 9-97343450-T-C
• MyVariant Identifiers: chr9:g.100105732T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97343450T>C , CM000671.2:g.97343450T>C	GRCh38
NC_000009.11:g.100105732T>C , CM000671.1:g.100105732T>C	GRCh37
NC_000009.10:g.99145553T>C	NCBI36
NG_052792.1:g.41147T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529487.3:c.2385T>C (CCDC180) MANE Select	ENSP00000434727.2:p.His795=
ENST00000460482.6:n.2719T>C (CCDC180)
ENST00000494917.6:n.2588T>C (CCDC180)
ENST00000528678.1:n.481T>C (CCDC180)
ENST00000529487.1:c.2517T>C (CCDC180)	ENSP00000434727.1:p.His839=
ENST00000530011.1:n.236-5661T>C (CCDC180)
NM_020893.2:c.2517T>C (CCDC180)	NP_065944.2:p.His839=
NR_036527.1:n.3940T>C (SUGT1P4-STRA6LP-CCDC180)
NR_036528.1:n.3940T>C (SUGT1P4-STRA6LP-CCDC180)
NR_036529.1:n.3500T>C (SUGT1P4-STRA6LP-CCDC180)
NM_001348010.1:c.2508T>C (CCDC180)	NP_001334939.1:p.His836=
NM_020893.3:c.2517T>C (CCDC180)	NP_065944.2:p.His839=
NM_001348010.2:c.2508T>C (CCDC180)	NP_001334939.1:p.His836=
NM_020893.4:c.2517T>C (CCDC180)	NP_065944.2:p.His839=
NM_001348010.4:c.2376T>C (CCDC180)	NP_001334939.2:p.His792=
NM_020893.6:c.2385T>C (CCDC180) MANE Select	NP_065944.3:p.His795=