Canonical Allele Identifier: CA217221

Gene: GFAP

Linked Data

• ClinVar Variation Id: 66505
• ClinVar RCV Id: RCV000056908 ; RCV000192144
• dbSNP Id: rs61726468
• MyVariant Identifiers: chr17:g.42990644C>G (hg19) ; chr17:g.44913276C>G (hg38)
• PubMed: PMID:11138011 ; PMID:20301351

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913276C>G , CM000679.2:g.44913276C>G	GRCh38
NC_000017.10:g.42990644C>G , CM000679.1:g.42990644C>G	GRCh37
NC_000017.9:g.40346170C>G	NCBI36
NG_008401.1:g.7271G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.773G>C	ENSP00000253408.5:p.Arg258Pro
ENST00000435360.8:c.773G>C	ENSP00000403962.1:p.Arg258Pro
ENST00000253408.10:c.773G>C	ENSP00000253408.5:p.Arg258Pro
ENST00000435360.7:c.773G>C	ENSP00000403962.1:p.Arg258Pro
ENST00000586127.6:n.1302G>C
ENST00000586793.6:c.773G>C	ENSP00000468500.2:p.Arg258Pro
ENST00000587997.6:n.249G>C
ENST00000588735.3:c.773G>C MANE Select	ENSP00000466598.2:p.Arg258Pro
ENST00000591327.2:n.1927G>C
ENST00000592320.6:c.618+452G>C	ENSP00000465320.1:n.618+452G>C
ENST00000638281.1:c.773G>C	ENSP00000491088.1:p.Arg258Pro
ENST00000638618.1:c.428G>C	ENSP00000492832.1:p.Arg143Pro
ENST00000639277.1:c.773G>C	ENSP00000492432.1:p.Arg258Pro
ENST00000640552.1:n.787G>C
ENST00000253408.9:c.773G>C	ENSP00000253408.4:p.Arg258Pro
ENST00000376990.8:c.*172G>C	ENSP00000366189.4:n.*172G>C
ENST00000435360.6:c.773G>C	ENSP00000403962.1:p.Arg258Pro
ENST00000586793.5:c.773G>C	ENSP00000468500.1:p.Arg258Pro
ENST00000587997.5:c.249G>C
ENST00000588316.1:c.677G>C	ENSP00000465629.1:p.Arg226Pro
ENST00000588735.1:c.82+2129G>C	ENSP00000466598.1:n.82+2129G>C
ENST00000588957.5:c.41G>C	ENSP00000465565.1:p.Arg14Pro
ENST00000590922.1:n.423G>C
ENST00000592320.5:c.618+452G>C	ENSP00000465320.1:n.618+452G>C
NM_001131019.2:c.773G>C	NP_001124491.1:p.Arg258Pro
NM_001242376.1:c.773G>C	NP_001229305.1:p.Arg258Pro
NM_002055.4:c.773G>C	NP_002046.1:p.Arg258Pro
NM_001363846.1:c.773G>C	NP_001350775.1:p.Arg258Pro
XM_024450690.1:c.977G>C	XP_024306458.1:p.Arg326Pro
XM_024450691.1:c.977G>C	XP_024306459.1:p.Arg326Pro
XM_024450692.1:c.977G>C	XP_024306460.1:p.Arg326Pro
XM_024450693.1:c.977G>C	XP_024306461.1:p.Arg326Pro
NM_002055.5:c.773G>C MANE Select	NP_002046.1:p.Arg258Pro
NM_001131019.3:c.773G>C	NP_001124491.1:p.Arg258Pro
NM_001242376.2:c.773G>C	NP_001229305.1:p.Arg258Pro
NM_001242376.3:c.773G>C	NP_001229305.1:p.Arg258Pro
NM_001363846.2:c.773G>C	NP_001350775.1:p.Arg258Pro