Canonical Allele Identifier: CA81542634

Gene: CFAP44

Linked Data

• dbSNP Id: rs776954093
• gnomAD v2: 3-113046643-G-A
• gnomAD v3: 3-113327796-G-A
• gnomAD v4: 3-113327796-G-A
• COSMIC: COSM3118774
• MyVariant Identifiers: chr3:g.113046643G>A (hg19) ; chr3:g.113327796G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.113327796G>A , CM000665.2:g.113327796G>A	GRCh38
NC_000003.11:g.113046643G>A , CM000665.1:g.113046643G>A	GRCh37
NC_000003.10:g.114529333G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000393845.9:c.4140C>T MANE Select	ENSP00000377428.2:p.Phe1380=
ENST00000393845.6:c.4140C>T	ENSP00000377428.2:p.Phe1380=
ENST00000461734.1:c.2C>T
ENST00000465636.5:c.1549C>T
NM_001164496.1:c.4140C>T	NP_001157968.1:p.Phe1380=
XM_005247617.2:c.1845C>T	XP_005247674.1:p.Phe615=
XM_006713696.1:c.4272C>T	XP_006713759.1:p.Phe1424=
XM_006713697.1:c.4119C>T	XP_006713760.1:p.Phe1373=
XM_011512975.1:c.4272C>T	XP_011511277.1:p.Phe1424=
XM_011512976.1:c.4140C>T	XP_011511278.1:p.Phe1380=
XM_011512977.1:c.3900C>T	XP_011511279.1:p.Phe1300=
XM_011512978.1:c.3591C>T	XP_011511280.1:p.Phe1197=
XM_011512979.1:c.3240C>T	XP_011511281.1:p.Phe1080=
XR_427370.1:n.4797C>T
XR_427371.2:n.4797C>T
NM_001164496.2:c.4140C>T MANE Select	NP_001157968.1:p.Phe1380=