Canonical Allele Identifier: CA374158952

Gene: CCDC180 SUGT1P4-STRA6LP-CCDC180

Linked Data

• dbSNP Id: rs1826154659
• gnomAD v3: 9-97343562-C-A
• gnomAD v4: 9-97343562-C-A
• MyVariant Identifiers: chr9:g.100105844C>A (hg19) ; chr9:g.97343562C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97343562C>A , CM000671.2:g.97343562C>A	GRCh38
NC_000009.11:g.100105844C>A , CM000671.1:g.100105844C>A	GRCh37
NC_000009.10:g.99145665C>A	NCBI36
NG_052792.1:g.41259C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529487.3:c.2497C>A (CCDC180) MANE Select	ENSP00000434727.2:p.Gln833Lys
ENST00000460482.6:n.2831C>A (CCDC180)
ENST00000494917.6:n.2700C>A (CCDC180)
ENST00000528678.1:n.593C>A (CCDC180)
ENST00000529487.1:c.2629C>A (CCDC180)	ENSP00000434727.1:p.Gln877Lys
ENST00000530011.1:n.236-5549C>A (CCDC180)
NM_020893.2:c.2629C>A (CCDC180)	NP_065944.2:p.Gln877Lys
NR_036527.1:n.4052C>A (SUGT1P4-STRA6LP-CCDC180)
NR_036528.1:n.4052C>A (SUGT1P4-STRA6LP-CCDC180)
NR_036529.1:n.3612C>A (SUGT1P4-STRA6LP-CCDC180)
NM_001348010.1:c.2620C>A (CCDC180)	NP_001334939.1:p.His874Asn
NM_020893.3:c.2629C>A (CCDC180)	NP_065944.2:p.Gln877Lys
NM_001348010.2:c.2620C>A (CCDC180)	NP_001334939.1:p.His874Asn
NM_020893.4:c.2629C>A (CCDC180)	NP_065944.2:p.Gln877Lys
NM_001348010.4:c.2488C>A (CCDC180)	NP_001334939.2:p.His830Asn
NM_020893.6:c.2497C>A (CCDC180) MANE Select	NP_065944.3:p.Gln833Lys