Canonical Allele Identifier: CA81562791

Gene: CFAP44

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.113400632C>A , CM000665.2:g.113400632C>A	GRCh38
NC_000003.11:g.113119479C>A , CM000665.1:g.113119479C>A	GRCh37
NC_000003.10:g.114602169C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393845.9:c.1387G>T MANE Select	ENSP00000377428.2:p.Glu463Ter
ENST00000649772.1:c.*1488G>T	ENSP00000497606.1:n.*1488G>T
ENST00000295868.6:c.1387G>T	ENSP00000295868.2:p.Glu463Ter
ENST00000393845.6:c.1387G>T	ENSP00000377428.2:p.Glu463Ter
ENST00000465186.1:c.116G>T	ENSP00000418743.1:n.116G>T
ENST00000488854.6:c.*803G>T	ENSP00000419844.2:n.*803G>T
NM_001164496.1:c.1387G>T	NP_001157968.1:p.Glu463Ter
NM_018338.3:c.1387G>T	NP_060808.2:p.Glu463Ter
XM_006713696.1:c.1519G>T	XP_006713759.1:p.Glu507Ter
XM_006713697.1:c.1366G>T	XP_006713760.1:p.Glu456Ter
XM_006713699.2:c.1519G>T	XP_006713762.1:p.Glu507Ter
XM_011512975.1:c.1519G>T	XP_011511277.1:p.Glu507Ter
XM_011512976.1:c.1387G>T	XP_011511278.1:p.Glu463Ter
XM_011512977.1:c.1519G>T	XP_011511279.1:p.Glu507Ter
XM_011512978.1:c.838G>T	XP_011511280.1:p.Glu280Ter
XM_011512979.1:c.487G>T	XP_011511281.1:p.Glu163Ter
XM_011512980.1:c.1519G>T	XP_011511282.1:p.Glu507Ter
XM_011512981.1:c.1519G>T	XP_011511283.1:p.Glu507Ter
XM_011512982.1:c.1519G>T	XP_011511284.1:p.Glu507Ter
XM_011512983.1:c.1519G>T	XP_011511285.1:p.Glu507Ter
XM_011512984.1:c.1519G>T	XP_011511286.1:p.Glu507Ter
XR_427370.1:n.2044G>T
XR_427371.2:n.2044G>T
NM_001164496.2:c.1387G>T MANE Select	NP_001157968.1:p.Glu463Ter