Canonical Allele Identifier: CA374158666

Gene: CCDC180 SUGT1P4-STRA6LP-CCDC180

Linked Data

• dbSNP Id: rs755111766
• gnomAD v2: 9-100105716-C-A
• gnomAD v4: 9-97343434-C-A
• MyVariant Identifiers: chr9:g.100105716C>A (hg19) ; chr9:g.97343434C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97343434C>A , CM000671.2:g.97343434C>A	GRCh38
NC_000009.11:g.100105716C>A , CM000671.1:g.100105716C>A	GRCh37
NC_000009.10:g.99145537C>A	NCBI36
NG_052792.1:g.41131C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529487.3:c.2369C>A (CCDC180) MANE Select	ENSP00000434727.2:p.Pro790His
ENST00000460482.6:n.2703C>A (CCDC180)
ENST00000494917.6:n.2572C>A (CCDC180)
ENST00000528678.1:n.465C>A (CCDC180)
ENST00000529487.1:c.2501C>A (CCDC180)	ENSP00000434727.1:p.Pro834His
ENST00000530011.1:n.236-5677C>A (CCDC180)
NM_020893.2:c.2501C>A (CCDC180)	NP_065944.2:p.Pro834His
NR_036527.1:n.3924C>A (SUGT1P4-STRA6LP-CCDC180)
NR_036528.1:n.3924C>A (SUGT1P4-STRA6LP-CCDC180)
NR_036529.1:n.3484C>A (SUGT1P4-STRA6LP-CCDC180)
NM_001348010.1:c.2492C>A (CCDC180)	NP_001334939.1:p.Pro831His
NM_020893.3:c.2501C>A (CCDC180)	NP_065944.2:p.Pro834His
NM_001348010.2:c.2492C>A (CCDC180)	NP_001334939.1:p.Pro831His
NM_020893.4:c.2501C>A (CCDC180)	NP_065944.2:p.Pro834His
NM_001348010.4:c.2360C>A (CCDC180)	NP_001334939.2:p.Pro787His
NM_020893.6:c.2369C>A (CCDC180) MANE Select	NP_065944.3:p.Pro790His