Canonical Allele Identifier: CA399843389

Gene: GFAP

Linked Data

• MyVariant Identifiers: chr17:g.42988622A>T (hg19) ; chr17:g.44911254A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44911254A>T , CM000679.2:g.44911254A>T	GRCh38
NC_000017.10:g.42988622A>T , CM000679.1:g.42988622A>T	GRCh37
NC_000017.9:g.40344148A>T	NCBI36
NG_008401.1:g.9293T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.1109T>A	ENSP00000253408.5:p.Leu370Gln
ENST00000435360.8:c.1109T>A	ENSP00000403962.1:p.Leu370Gln
ENST00000253408.10:c.1109T>A	ENSP00000253408.5:p.Leu370Gln
ENST00000435360.7:c.1109T>A	ENSP00000403962.1:p.Leu370Gln
ENST00000585543.6:n.262T>A
ENST00000586125.2:c.44T>A	ENSP00000467397.2:p.Leu15Gln
ENST00000586127.6:n.1638T>A
ENST00000586793.6:c.974T>A	ENSP00000468500.2:p.Leu325Gln
ENST00000587997.6:n.585T>A
ENST00000588735.3:c.1109T>A MANE Select	ENSP00000466598.2:p.Leu370Gln
ENST00000591327.2:n.2263T>A
ENST00000591880.2:c.39T>A
ENST00000592320.6:c.686T>A	ENSP00000465320.1:p.Leu229Gln
ENST00000638281.1:c.1109T>A	ENSP00000491088.1:p.Leu370Gln
ENST00000638304.1:c.28T>A
ENST00000638488.1:n.50T>A
ENST00000638618.1:c.764T>A	ENSP00000492832.1:p.Leu255Gln
ENST00000639042.1:c.46T>A
ENST00000639277.1:c.1109T>A	ENSP00000492432.1:p.Leu370Gln
ENST00000639921.1:c.66T>A
ENST00000640552.1:n.1123T>A
ENST00000253408.9:c.1109T>A	ENSP00000253408.4:p.Leu370Gln
ENST00000435360.6:c.1109T>A	ENSP00000403962.1:p.Leu370Gln
ENST00000585543.5:n.262T>A
ENST00000586793.5:c.1109T>A	ENSP00000468500.1:p.Leu370Gln
ENST00000588640.5:n.489T>A
ENST00000588735.1:c.83-3138T>A	ENSP00000466598.1:n.83-3138T>A
ENST00000592320.5:c.686T>A	ENSP00000465320.1:p.Leu229Gln
NM_001131019.2:c.1109T>A	NP_001124491.1:p.Leu370Gln
NM_001242376.1:c.1109T>A	NP_001229305.1:p.Leu370Gln
NM_002055.4:c.1109T>A	NP_002046.1:p.Leu370Gln
NM_001363846.1:c.1109T>A	NP_001350775.1:p.Leu370Gln
XM_024450690.1:c.1313T>A	XP_024306458.1:p.Leu438Gln
XM_024450691.1:c.1313T>A	XP_024306459.1:p.Leu438Gln
XM_024450692.1:c.1313T>A	XP_024306460.1:p.Leu438Gln
XM_024450693.1:c.1313T>A	XP_024306461.1:p.Leu438Gln
NM_002055.5:c.1109T>A MANE Select	NP_002046.1:p.Leu370Gln
NM_001131019.3:c.1109T>A	NP_001124491.1:p.Leu370Gln
NM_001242376.2:c.1109T>A	NP_001229305.1:p.Leu370Gln
NM_001242376.3:c.1109T>A	NP_001229305.1:p.Leu370Gln
NM_001363846.2:c.1109T>A	NP_001350775.1:p.Leu370Gln