Canonical Allele Identifier: CA8608892

Gene: GFAP

Linked Data

• dbSNP Id: rs57661783
• ExAC: 17:42990789 C / A
• gnomAD v2: 17-42990789-C-A
• MyVariant Identifiers: chr17:g.42990789C>A (hg19) ; chr17:g.44913421C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913421C>A , CM000679.2:g.44913421C>A	GRCh38
NC_000017.10:g.42990789C>A , CM000679.1:g.42990789C>A	GRCh37
NC_000017.9:g.40346315C>A	NCBI36
NG_008401.1:g.7126G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.628G>T	ENSP00000253408.5:p.Glu210Ter
ENST00000435360.8:c.628G>T	ENSP00000403962.1:p.Glu210Ter
ENST00000253408.10:c.628G>T	ENSP00000253408.5:p.Glu210Ter
ENST00000435360.7:c.628G>T	ENSP00000403962.1:p.Glu210Ter
ENST00000586127.6:n.1157G>T
ENST00000586793.6:c.628G>T	ENSP00000468500.2:p.Glu210Ter
ENST00000587997.6:n.104G>T
ENST00000588735.3:c.628G>T MANE Select	ENSP00000466598.2:p.Glu210Ter
ENST00000591327.2:n.1782G>T
ENST00000592320.6:c.618+307G>T	ENSP00000465320.1:n.618+307G>T
ENST00000638281.1:c.628G>T	ENSP00000491088.1:p.Glu210Ter
ENST00000638618.1:c.283G>T	ENSP00000492832.1:p.Glu95Ter
ENST00000639277.1:c.628G>T	ENSP00000492432.1:p.Glu210Ter
ENST00000640552.1:n.642G>T
ENST00000253408.9:c.628G>T	ENSP00000253408.4:p.Glu210Ter
ENST00000376990.8:c.*27G>T	ENSP00000366189.4:n.*27G>T
ENST00000435360.6:c.628G>T	ENSP00000403962.1:p.Glu210Ter
ENST00000585728.5:c.*272G>T	ENSP00000465208.1:n.*272G>T
ENST00000586127.5:c.-34G>T	ENSP00000464795.1:n.-34G>T
ENST00000586793.5:c.628G>T	ENSP00000468500.1:p.Glu210Ter
ENST00000587997.5:c.104G>T
ENST00000588316.1:c.532G>T	ENSP00000465629.1:p.Glu178Ter
ENST00000588735.1:c.82+1984G>T	ENSP00000466598.1:n.82+1984G>T
ENST00000588957.5:c.-105G>T	ENSP00000465565.1:n.-105G>T
ENST00000590922.1:n.278G>T
ENST00000591327.1:n.581G>T
ENST00000592320.5:c.618+307G>T	ENSP00000465320.1:n.618+307G>T
NM_001131019.2:c.628G>T	NP_001124491.1:p.Glu210Ter
NM_001242376.1:c.628G>T	NP_001229305.1:p.Glu210Ter
NM_002055.4:c.628G>T	NP_002046.1:p.Glu210Ter
NM_001363846.1:c.628G>T	NP_001350775.1:p.Glu210Ter
XM_024450690.1:c.832G>T	XP_024306458.1:p.Glu278Ter
XM_024450691.1:c.832G>T	XP_024306459.1:p.Glu278Ter
XM_024450692.1:c.832G>T	XP_024306460.1:p.Glu278Ter
XM_024450693.1:c.832G>T	XP_024306461.1:p.Glu278Ter
NM_002055.5:c.628G>T MANE Select	NP_002046.1:p.Glu210Ter
NM_001131019.3:c.628G>T	NP_001124491.1:p.Glu210Ter
NM_001242376.2:c.628G>T	NP_001229305.1:p.Glu210Ter
NM_001242376.3:c.628G>T	NP_001229305.1:p.Glu210Ter
NM_001363846.2:c.628G>T	NP_001350775.1:p.Glu210Ter