Canonical Allele Identifier: CA353777927

Gene: CFAP44

Linked Data

• dbSNP Id: rs1169094537
• gnomAD v2: 3-113046642-C-T
• gnomAD v3: 3-113327795-C-T
• gnomAD v4: 3-113327795-C-T
• MyVariant Identifiers: chr3:g.113046642C>T (hg19) ; chr3:g.113327795C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.113327795C>T , CM000665.2:g.113327795C>T	GRCh38
NC_000003.11:g.113046642C>T , CM000665.1:g.113046642C>T	GRCh37
NC_000003.10:g.114529332C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000393845.9:c.4141G>A MANE Select	ENSP00000377428.2:p.Asp1381Asn
ENST00000393845.6:c.4141G>A	ENSP00000377428.2:p.Asp1381Asn
ENST00000461734.1:c.3G>A
ENST00000465636.5:c.1550G>A
NM_001164496.1:c.4141G>A	NP_001157968.1:p.Asp1381Asn
XM_005247617.2:c.1846G>A	XP_005247674.1:p.Asp616Asn
XM_006713696.1:c.4273G>A	XP_006713759.1:p.Asp1425Asn
XM_006713697.1:c.4120G>A	XP_006713760.1:p.Asp1374Asn
XM_011512975.1:c.4273G>A	XP_011511277.1:p.Asp1425Asn
XM_011512976.1:c.4141G>A	XP_011511278.1:p.Asp1381Asn
XM_011512977.1:c.3901G>A	XP_011511279.1:p.Asp1301Asn
XM_011512978.1:c.3592G>A	XP_011511280.1:p.Asp1198Asn
XM_011512979.1:c.3241G>A	XP_011511281.1:p.Asp1081Asn
XR_427370.1:n.4798G>A
XR_427371.2:n.4798G>A
NM_001164496.2:c.4141G>A MANE Select	NP_001157968.1:p.Asp1381Asn