Canonical Allele Identifier: CA353777990

Gene: CFAP44

Linked Data

• dbSNP Id: rs1427518994
• gnomAD v2: 3-113046654-C-A
• gnomAD v4: 3-113327807-C-A
• MyVariant Identifiers: chr3:g.113046654C>A (hg19) ; chr3:g.113327807C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.113327807C>A , CM000665.2:g.113327807C>A	GRCh38
NC_000003.11:g.113046654C>A , CM000665.1:g.113046654C>A	GRCh37
NC_000003.10:g.114529344C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000393845.9:c.4129G>T MANE Select	ENSP00000377428.2:p.Val1377Phe
ENST00000393845.6:c.4129G>T	ENSP00000377428.2:p.Val1377Phe
ENST00000465636.5:c.1538G>T
NM_001164496.1:c.4129G>T	NP_001157968.1:p.Val1377Phe
XM_005247617.2:c.1834G>T	XP_005247674.1:p.Val612Phe
XM_006713696.1:c.4261G>T	XP_006713759.1:p.Val1421Phe
XM_006713697.1:c.4108G>T	XP_006713760.1:p.Val1370Phe
XM_011512975.1:c.4261G>T	XP_011511277.1:p.Val1421Phe
XM_011512976.1:c.4129G>T	XP_011511278.1:p.Val1377Phe
XM_011512977.1:c.3889G>T	XP_011511279.1:p.Val1297Phe
XM_011512978.1:c.3580G>T	XP_011511280.1:p.Val1194Phe
XM_011512979.1:c.3229G>T	XP_011511281.1:p.Val1077Phe
XR_427370.1:n.4786G>T
XR_427371.2:n.4786G>T
NM_001164496.2:c.4129G>T MANE Select	NP_001157968.1:p.Val1377Phe