Canonical Allele Identifier: CA347200

Gene: GFAP

Linked Data

• ClinVar Variation Id: 190343
• ClinVar RCV Id: RCV000192132
• dbSNP Id: rs797044577
• MyVariant Identifiers: chr17:g.42990725A>T (hg19) ; chr17:g.44913357A>T (hg38)
• PubMed: PMID:18581469 ; PMID:20301351

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913357A>T , CM000679.2:g.44913357A>T	GRCh38
NC_000017.10:g.42990725A>T , CM000679.1:g.42990725A>T	GRCh37
NC_000017.9:g.40346251A>T	NCBI36
NG_008401.1:g.7190T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.692T>A	ENSP00000253408.5:p.Leu231His
ENST00000435360.8:c.692T>A	ENSP00000403962.1:p.Leu231His
ENST00000253408.10:c.692T>A	ENSP00000253408.5:p.Leu231His
ENST00000435360.7:c.692T>A	ENSP00000403962.1:p.Leu231His
ENST00000586127.6:n.1221T>A
ENST00000586793.6:c.692T>A	ENSP00000468500.2:p.Leu231His
ENST00000587997.6:n.168T>A
ENST00000588735.3:c.692T>A MANE Select	ENSP00000466598.2:p.Leu231His
ENST00000591327.2:n.1846T>A
ENST00000592320.6:c.618+371T>A	ENSP00000465320.1:n.618+371T>A
ENST00000638281.1:c.692T>A	ENSP00000491088.1:p.Leu231His
ENST00000638618.1:c.347T>A	ENSP00000492832.1:p.Leu116His
ENST00000639277.1:c.692T>A	ENSP00000492432.1:p.Leu231His
ENST00000640552.1:n.706T>A
ENST00000253408.9:c.692T>A	ENSP00000253408.4:p.Leu231His
ENST00000376990.8:c.*91T>A	ENSP00000366189.4:n.*91T>A
ENST00000435360.6:c.692T>A	ENSP00000403962.1:p.Leu231His
ENST00000585728.5:c.*336T>A	ENSP00000465208.1:n.*336T>A
ENST00000586127.5:c.31T>A	ENSP00000464795.1:p.Ser11Thr
ENST00000586793.5:c.692T>A	ENSP00000468500.1:p.Leu231His
ENST00000587997.5:c.168T>A
ENST00000588316.1:c.596T>A	ENSP00000465629.1:p.Leu199His
ENST00000588735.1:c.82+2048T>A	ENSP00000466598.1:n.82+2048T>A
ENST00000588957.5:c.-41T>A	ENSP00000465565.1:n.-41T>A
ENST00000590922.1:n.342T>A
ENST00000592320.5:c.618+371T>A	ENSP00000465320.1:n.618+371T>A
NM_001131019.2:c.692T>A	NP_001124491.1:p.Leu231His
NM_001242376.1:c.692T>A	NP_001229305.1:p.Leu231His
NM_002055.4:c.692T>A	NP_002046.1:p.Leu231His
NM_001363846.1:c.692T>A	NP_001350775.1:p.Leu231His
XM_024450690.1:c.896T>A	XP_024306458.1:p.Leu299His
XM_024450691.1:c.896T>A	XP_024306459.1:p.Leu299His
XM_024450692.1:c.896T>A	XP_024306460.1:p.Leu299His
XM_024450693.1:c.896T>A	XP_024306461.1:p.Leu299His
NM_002055.5:c.692T>A MANE Select	NP_002046.1:p.Leu231His
NM_001131019.3:c.692T>A	NP_001124491.1:p.Leu231His
NM_001242376.2:c.692T>A	NP_001229305.1:p.Leu231His
NM_001242376.3:c.692T>A	NP_001229305.1:p.Leu231His
NM_001363846.2:c.692T>A	NP_001350775.1:p.Leu231His