Canonical Allele Identifier: CA374158505

Gene: CCDC180 SUGT1P4-STRA6LP-CCDC180

Linked Data

• dbSNP Id: rs1826144904
• gnomAD v4: 9-97343364-G-C
• MyVariant Identifiers: chr9:g.100105646G>C (hg19) ; chr9:g.97343364G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97343364G>C , CM000671.2:g.97343364G>C	GRCh38
NC_000009.11:g.100105646G>C , CM000671.1:g.100105646G>C	GRCh37
NC_000009.10:g.99145467G>C	NCBI36
NG_052792.1:g.41061G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529487.3:c.2299G>C (CCDC180) MANE Select	ENSP00000434727.2:p.Glu767Gln
ENST00000460482.6:n.2633G>C (CCDC180)
ENST00000494917.6:n.2502G>C (CCDC180)
ENST00000528678.1:n.395G>C (CCDC180)
ENST00000529487.1:c.2431G>C (CCDC180)	ENSP00000434727.1:p.Glu811Gln
ENST00000530011.1:n.236-5747G>C (CCDC180)
NM_020893.2:c.2431G>C (CCDC180)	NP_065944.2:p.Glu811Gln
NR_036527.1:n.3854G>C (SUGT1P4-STRA6LP-CCDC180)
NR_036528.1:n.3854G>C (SUGT1P4-STRA6LP-CCDC180)
NR_036529.1:n.3414G>C (SUGT1P4-STRA6LP-CCDC180)
NM_001348010.1:c.2422G>C (CCDC180)	NP_001334939.1:p.Glu808Gln
NM_020893.3:c.2431G>C (CCDC180)	NP_065944.2:p.Glu811Gln
NM_001348010.2:c.2422G>C (CCDC180)	NP_001334939.1:p.Glu808Gln
NM_020893.4:c.2431G>C (CCDC180)	NP_065944.2:p.Glu811Gln
NM_001348010.4:c.2290G>C (CCDC180)	NP_001334939.2:p.Glu764Gln
NM_020893.6:c.2299G>C (CCDC180) MANE Select	NP_065944.3:p.Glu767Gln