Canonical Allele Identifier: CA500321497

Gene: GFAP

Linked Data

• MyVariant Identifiers: chr17:g.42990757G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913389G>T , CM000679.2:g.44913389G>T	GRCh38
NC_000017.10:g.42990757G>T , CM000679.1:g.42990757G>T	GRCh37
NC_000017.9:g.40346283G>T	NCBI36
NG_008401.1:g.7158C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.660C>A	ENSP00000253408.5:p.Val220=
ENST00000435360.8:c.660C>A	ENSP00000403962.1:p.Val220=
ENST00000253408.10:c.660C>A	ENSP00000253408.5:p.Val220=
ENST00000435360.7:c.660C>A	ENSP00000403962.1:p.Val220=
ENST00000586127.6:n.1189C>A
ENST00000586793.6:c.660C>A	ENSP00000468500.2:p.Val220=
ENST00000587997.6:n.136C>A
ENST00000588735.3:c.660C>A MANE Select	ENSP00000466598.2:p.Val220=
ENST00000591327.2:n.1814C>A
ENST00000592320.6:c.618+339C>A	ENSP00000465320.1:n.618+339C>A
ENST00000638281.1:c.660C>A	ENSP00000491088.1:p.Val220=
ENST00000638618.1:c.315C>A	ENSP00000492832.1:p.Val105=
ENST00000639277.1:c.660C>A	ENSP00000492432.1:p.Val220=
ENST00000640552.1:n.674C>A
ENST00000253408.9:c.660C>A	ENSP00000253408.4:p.Val220=
ENST00000376990.8:c.*59C>A	ENSP00000366189.4:n.*59C>A
ENST00000435360.6:c.660C>A	ENSP00000403962.1:p.Val220=
ENST00000585728.5:c.*304C>A	ENSP00000465208.1:n.*304C>A
ENST00000586127.5:c.-2C>A	ENSP00000464795.1:n.-2C>A
ENST00000586793.5:c.660C>A	ENSP00000468500.1:p.Val220=
ENST00000587997.5:c.136C>A
ENST00000588316.1:c.564C>A	ENSP00000465629.1:p.Val188=
ENST00000588735.1:c.82+2016C>A	ENSP00000466598.1:n.82+2016C>A
ENST00000588957.5:c.-73C>A	ENSP00000465565.1:n.-73C>A
ENST00000590922.1:n.310C>A
ENST00000592320.5:c.618+339C>A	ENSP00000465320.1:n.618+339C>A
NM_001131019.2:c.660C>A	NP_001124491.1:p.Val220=
NM_001242376.1:c.660C>A	NP_001229305.1:p.Val220=
NM_002055.4:c.660C>A	NP_002046.1:p.Val220=
NM_001363846.1:c.660C>A	NP_001350775.1:p.Val220=
XM_024450690.1:c.864C>A	XP_024306458.1:p.Val288=
XM_024450691.1:c.864C>A	XP_024306459.1:p.Val288=
XM_024450692.1:c.864C>A	XP_024306460.1:p.Val288=
XM_024450693.1:c.864C>A	XP_024306461.1:p.Val288=
NM_002055.5:c.660C>A MANE Select	NP_002046.1:p.Val220=
NM_001131019.3:c.660C>A	NP_001124491.1:p.Val220=
NM_001242376.2:c.660C>A	NP_001229305.1:p.Val220=
NM_001242376.3:c.660C>A	NP_001229305.1:p.Val220=
NM_001363846.2:c.660C>A	NP_001350775.1:p.Val220=