Canonical Allele Identifier: CA500321262

Gene: GFAP

Linked Data

• dbSNP Id: rs780859347
• COSMIC: COSM6081185 ; COSM6081186
• MyVariant Identifiers: chr17:g.42988648G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44911280G>T , CM000679.2:g.44911280G>T	GRCh38
NC_000017.10:g.42988648G>T , CM000679.1:g.42988648G>T	GRCh37
NC_000017.9:g.40344174G>T	NCBI36
NG_008401.1:g.9267C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.1083C>A	ENSP00000253408.5:p.Ile361=
ENST00000435360.8:c.1083C>A	ENSP00000403962.1:p.Ile361=
ENST00000253408.10:c.1083C>A	ENSP00000253408.5:p.Ile361=
ENST00000435360.7:c.1083C>A	ENSP00000403962.1:p.Ile361=
ENST00000585543.6:n.236C>A
ENST00000586125.2:c.18C>A	ENSP00000467397.2:p.Ile6=
ENST00000586127.6:n.1612C>A
ENST00000586793.6:c.948C>A	ENSP00000468500.2:p.Ile316=
ENST00000587997.6:n.559C>A
ENST00000588735.3:c.1083C>A MANE Select	ENSP00000466598.2:p.Ile361=
ENST00000591327.2:n.2237C>A
ENST00000591880.2:c.13C>A
ENST00000592320.6:c.660C>A	ENSP00000465320.1:p.Ile220=
ENST00000638281.1:c.1083C>A	ENSP00000491088.1:p.Ile361=
ENST00000638304.1:c.2C>A
ENST00000638488.1:n.24C>A
ENST00000638618.1:c.738C>A	ENSP00000492832.1:p.Ile246=
ENST00000639042.1:c.20C>A
ENST00000639277.1:c.1083C>A	ENSP00000492432.1:p.Ile361=
ENST00000639921.1:c.40C>A
ENST00000640552.1:n.1097C>A
ENST00000253408.9:c.1083C>A	ENSP00000253408.4:p.Ile361=
ENST00000435360.6:c.1083C>A	ENSP00000403962.1:p.Ile361=
ENST00000585543.5:n.236C>A
ENST00000586793.5:c.1083C>A	ENSP00000468500.1:p.Ile361=
ENST00000587997.5:c.559C>A
ENST00000588640.5:n.463C>A
ENST00000588735.1:c.83-3164C>A	ENSP00000466598.1:n.83-3164C>A
ENST00000592320.5:c.660C>A	ENSP00000465320.1:p.Ile220=
NM_001131019.2:c.1083C>A	NP_001124491.1:p.Ile361=
NM_001242376.1:c.1083C>A	NP_001229305.1:p.Ile361=
NM_002055.4:c.1083C>A	NP_002046.1:p.Ile361=
NM_001363846.1:c.1083C>A	NP_001350775.1:p.Ile361=
XM_024450690.1:c.1287C>A	XP_024306458.1:p.Ile429=
XM_024450691.1:c.1287C>A	XP_024306459.1:p.Ile429=
XM_024450692.1:c.1287C>A	XP_024306460.1:p.Ile429=
XM_024450693.1:c.1287C>A	XP_024306461.1:p.Ile429=
NM_002055.5:c.1083C>A MANE Select	NP_002046.1:p.Ile361=
NM_001131019.3:c.1083C>A	NP_001124491.1:p.Ile361=
NM_001242376.2:c.1083C>A	NP_001229305.1:p.Ile361=
NM_001242376.3:c.1083C>A	NP_001229305.1:p.Ile361=
NM_001363846.2:c.1083C>A	NP_001350775.1:p.Ile361=