Canonical Allele Identifier: CA8608759

Gene: GFAP

Linked Data

• dbSNP Id: rs751087377
• ExAC: 17:42988617 C / T
• gnomAD v2: 17-42988617-C-T
• gnomAD v4: 17-44911249-C-T
• MyVariant Identifiers: chr17:g.42988617C>T (hg19) ; chr17:g.44911249C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44911249C>T , CM000679.2:g.44911249C>T	GRCh38
NC_000017.10:g.42988617C>T , CM000679.1:g.42988617C>T	GRCh37
NC_000017.9:g.40344143C>T	NCBI36
NG_008401.1:g.9298G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1114G>A	ENSP00000253408.5:p.Gly372Ser
ENST00000435360.8:c.1114G>A	ENSP00000403962.1:p.Gly372Ser
ENST00000253408.10:c.1114G>A	ENSP00000253408.5:p.Gly372Ser
ENST00000435360.7:c.1114G>A	ENSP00000403962.1:p.Gly372Ser
ENST00000585543.6:n.267G>A
ENST00000586125.2:c.49G>A	ENSP00000467397.2:p.Gly17Ser
ENST00000586127.6:n.1643G>A
ENST00000586793.6:c.979G>A	ENSP00000468500.2:p.Gly327Ser
ENST00000587997.6:n.590G>A
ENST00000588735.3:c.1114G>A MANE Select	ENSP00000466598.2:p.Gly372Ser
ENST00000591327.2:n.2268G>A
ENST00000591880.2:c.44G>A
ENST00000592320.6:c.691G>A	ENSP00000465320.1:p.Gly231Ser
ENST00000638281.1:c.1114G>A	ENSP00000491088.1:p.Gly372Ser
ENST00000638304.1:c.33G>A
ENST00000638488.1:n.55G>A
ENST00000638618.1:c.769G>A	ENSP00000492832.1:p.Gly257Ser
ENST00000639042.1:c.51G>A
ENST00000639277.1:c.1114G>A	ENSP00000492432.1:p.Gly372Ser
ENST00000639921.1:c.71G>A
ENST00000640552.1:n.1128G>A
ENST00000253408.9:c.1114G>A	ENSP00000253408.4:p.Gly372Ser
ENST00000435360.6:c.1114G>A	ENSP00000403962.1:p.Gly372Ser
ENST00000585543.5:n.267G>A
ENST00000586793.5:c.1114G>A	ENSP00000468500.1:p.Gly372Ser
ENST00000588640.5:n.494G>A
ENST00000588735.1:c.83-3133G>A	ENSP00000466598.1:n.83-3133G>A
ENST00000592320.5:c.691G>A	ENSP00000465320.1:p.Gly231Ser
NM_001131019.2:c.1114G>A	NP_001124491.1:p.Gly372Ser
NM_001242376.1:c.1114G>A	NP_001229305.1:p.Gly372Ser
NM_002055.4:c.1114G>A	NP_002046.1:p.Gly372Ser
NM_001363846.1:c.1114G>A	NP_001350775.1:p.Gly372Ser
XM_024450690.1:c.1318G>A	XP_024306458.1:p.Gly440Ser
XM_024450691.1:c.1318G>A	XP_024306459.1:p.Gly440Ser
XM_024450692.1:c.1318G>A	XP_024306460.1:p.Gly440Ser
XM_024450693.1:c.1318G>A	XP_024306461.1:p.Gly440Ser
NM_002055.5:c.1114G>A MANE Select	NP_002046.1:p.Gly372Ser
NM_001131019.3:c.1114G>A	NP_001124491.1:p.Gly372Ser
NM_001242376.2:c.1114G>A	NP_001229305.1:p.Gly372Ser
NM_001242376.3:c.1114G>A	NP_001229305.1:p.Gly372Ser
NM_001363846.2:c.1114G>A	NP_001350775.1:p.Gly372Ser