Canonical Allele Identifier: CA8608875

Gene: GFAP

Linked Data

• dbSNP Id: rs374224631
• ExAC: 17:42990680 G / T
• gnomAD v2: 17-42990680-G-T
• gnomAD v3: 17-44913312-G-T
• gnomAD v4: 17-44913312-G-T
• MyVariant Identifiers: chr17:g.42990680G>T (hg19) ; chr17:g.44913312G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913312G>T , CM000679.2:g.44913312G>T	GRCh38
NC_000017.10:g.42990680G>T , CM000679.1:g.42990680G>T	GRCh37
NC_000017.9:g.40346206G>T	NCBI36
NG_008401.1:g.7235C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.737C>A	ENSP00000253408.5:p.Ala246Glu
ENST00000435360.8:c.737C>A	ENSP00000403962.1:p.Ala246Glu
ENST00000253408.10:c.737C>A	ENSP00000253408.5:p.Ala246Glu
ENST00000435360.7:c.737C>A	ENSP00000403962.1:p.Ala246Glu
ENST00000586127.6:n.1266C>A
ENST00000586793.6:c.737C>A	ENSP00000468500.2:p.Ala246Glu
ENST00000587997.6:n.213C>A
ENST00000588735.3:c.737C>A MANE Select	ENSP00000466598.2:p.Ala246Glu
ENST00000591327.2:n.1891C>A
ENST00000592320.6:c.618+416C>A	ENSP00000465320.1:n.618+416C>A
ENST00000638281.1:c.737C>A	ENSP00000491088.1:p.Ala246Glu
ENST00000638618.1:c.392C>A	ENSP00000492832.1:p.Ala131Glu
ENST00000639277.1:c.737C>A	ENSP00000492432.1:p.Ala246Glu
ENST00000640552.1:n.751C>A
ENST00000253408.9:c.737C>A	ENSP00000253408.4:p.Ala246Glu
ENST00000376990.8:c.*136C>A	ENSP00000366189.4:n.*136C>A
ENST00000435360.6:c.737C>A	ENSP00000403962.1:p.Ala246Glu
ENST00000586793.5:c.737C>A	ENSP00000468500.1:p.Ala246Glu
ENST00000587997.5:c.213C>A
ENST00000588316.1:c.641C>A	ENSP00000465629.1:p.Ala214Glu
ENST00000588735.1:c.82+2093C>A	ENSP00000466598.1:n.82+2093C>A
ENST00000588957.5:c.5C>A	ENSP00000465565.1:p.Ala2Glu
ENST00000590922.1:n.387C>A
ENST00000592320.5:c.618+416C>A	ENSP00000465320.1:n.618+416C>A
NM_001131019.2:c.737C>A	NP_001124491.1:p.Ala246Glu
NM_001242376.1:c.737C>A	NP_001229305.1:p.Ala246Glu
NM_002055.4:c.737C>A	NP_002046.1:p.Ala246Glu
NM_001363846.1:c.737C>A	NP_001350775.1:p.Ala246Glu
XM_024450690.1:c.941C>A	XP_024306458.1:p.Ala314Glu
XM_024450691.1:c.941C>A	XP_024306459.1:p.Ala314Glu
XM_024450692.1:c.941C>A	XP_024306460.1:p.Ala314Glu
XM_024450693.1:c.941C>A	XP_024306461.1:p.Ala314Glu
NM_002055.5:c.737C>A MANE Select	NP_002046.1:p.Ala246Glu
NM_001131019.3:c.737C>A	NP_001124491.1:p.Ala246Glu
NM_001242376.2:c.737C>A	NP_001229305.1:p.Ala246Glu
NM_001242376.3:c.737C>A	NP_001229305.1:p.Ala246Glu
NM_001363846.2:c.737C>A	NP_001350775.1:p.Ala246Glu