Canonical Allele Identifier: CA399843811

Gene: GFAP

Linked Data

• MyVariant Identifiers: chr17:g.42988691T>A (hg19) ; chr17:g.44911323T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44911323T>A , CM000679.2:g.44911323T>A	GRCh38
NC_000017.10:g.42988691T>A , CM000679.1:g.42988691T>A	GRCh37
NC_000017.9:g.40344217T>A	NCBI36
NG_008401.1:g.9224A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1040A>T	ENSP00000253408.5:p.Gln347Leu
ENST00000435360.8:c.1040A>T	ENSP00000403962.1:p.Gln347Leu
ENST00000253408.10:c.1040A>T	ENSP00000253408.5:p.Gln347Leu
ENST00000435360.7:c.1040A>T	ENSP00000403962.1:p.Gln347Leu
ENST00000585543.6:n.193A>T
ENST00000586127.6:n.1569A>T
ENST00000586793.6:c.907-2A>T	ENSP00000468500.2:n.907-2A>T
ENST00000587997.6:n.516A>T
ENST00000588735.3:c.1040A>T MANE Select	ENSP00000466598.2:p.Gln347Leu
ENST00000591327.2:n.2194A>T
ENST00000592320.6:c.619-2A>T	ENSP00000465320.1:n.619-2A>T
ENST00000638281.1:c.1040A>T	ENSP00000491088.1:p.Gln347Leu
ENST00000638618.1:c.695A>T	ENSP00000492832.1:p.Gln232Leu
ENST00000639277.1:c.1040A>T	ENSP00000492432.1:p.Gln347Leu
ENST00000640552.1:n.1054A>T
ENST00000253408.9:c.1040A>T	ENSP00000253408.4:p.Gln347Leu
ENST00000376990.8:c.*439A>T	ENSP00000366189.4:n.*439A>T
ENST00000435360.6:c.1040A>T	ENSP00000403962.1:p.Gln347Leu
ENST00000585543.5:n.193A>T
ENST00000586793.5:c.1040A>T	ENSP00000468500.1:p.Gln347Leu
ENST00000587997.5:c.516A>T
ENST00000588640.5:n.420A>T
ENST00000588735.1:c.83-3207A>T	ENSP00000466598.1:n.83-3207A>T
ENST00000592320.5:c.619-2A>T	ENSP00000465320.1:n.619-2A>T
NM_001131019.2:c.1040A>T	NP_001124491.1:p.Gln347Leu
NM_001242376.1:c.1040A>T	NP_001229305.1:p.Gln347Leu
NM_002055.4:c.1040A>T	NP_002046.1:p.Gln347Leu
NM_001363846.1:c.1040A>T	NP_001350775.1:p.Gln347Leu
XM_024450690.1:c.1244A>T	XP_024306458.1:p.Gln415Leu
XM_024450691.1:c.1244A>T	XP_024306459.1:p.Gln415Leu
XM_024450692.1:c.1244A>T	XP_024306460.1:p.Gln415Leu
XM_024450693.1:c.1244A>T	XP_024306461.1:p.Gln415Leu
NM_002055.5:c.1040A>T MANE Select	NP_002046.1:p.Gln347Leu
NM_001131019.3:c.1040A>T	NP_001124491.1:p.Gln347Leu
NM_001242376.2:c.1040A>T	NP_001229305.1:p.Gln347Leu
NM_001242376.3:c.1040A>T	NP_001229305.1:p.Gln347Leu
NM_001363846.2:c.1040A>T	NP_001350775.1:p.Gln347Leu