Canonical Allele Identifier: CA217169

Gene: GFAP

Linked Data

• ClinVar Variation Id: 66472
• ClinVar RCV Id: RCV000056871 ; RCV000192112
• dbSNP Id: rs59285727
• MyVariant Identifiers: chr17:g.42992619C>A (hg19) ; chr17:g.44915251C>A (hg38)
• PubMed: PMID:12581808 ; PMID:20301351 ; PMID:21533827

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44915251C>A , CM000679.2:g.44915251C>A	GRCh38
NC_000017.10:g.42992619C>A , CM000679.1:g.42992619C>A	GRCh37
NC_000017.9:g.40348145C>A	NCBI36
NG_008401.1:g.5296G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.236G>T	ENSP00000253408.5:p.Arg79Leu
ENST00000435360.8:c.236G>T	ENSP00000403962.1:p.Arg79Leu
ENST00000253408.10:c.236G>T	ENSP00000253408.5:p.Arg79Leu
ENST00000435360.7:c.236G>T	ENSP00000403962.1:p.Arg79Leu
ENST00000586793.6:c.236G>T	ENSP00000468500.2:p.Arg79Leu
ENST00000588735.3:c.236G>T MANE Select	ENSP00000466598.2:p.Arg79Leu
ENST00000591327.2:n.249G>T
ENST00000592320.6:c.236G>T	ENSP00000465320.1:p.Arg79Leu
ENST00000638281.1:c.236G>T	ENSP00000491088.1:p.Arg79Leu
ENST00000639277.1:c.236G>T	ENSP00000492432.1:p.Arg79Leu
ENST00000640552.1:n.250G>T
ENST00000253408.9:c.236G>T	ENSP00000253408.4:p.Arg79Leu
ENST00000376990.8:c.236G>T	ENSP00000366189.4:p.Arg79Leu
ENST00000435360.6:c.236G>T	ENSP00000403962.1:p.Arg79Leu
ENST00000585728.5:c.181+55G>T	ENSP00000465208.1:n.181+55G>T
ENST00000586793.5:c.236G>T	ENSP00000468500.1:p.Arg79Leu
ENST00000588037.1:c.236G>T	ENSP00000466163.1:p.Arg79Leu
ENST00000588316.1:c.236G>T	ENSP00000465629.1:p.Arg79Leu
ENST00000588735.1:c.82+154G>T	ENSP00000466598.1:n.82+154G>T
ENST00000588957.5:c.-272+566G>T	ENSP00000465565.1:n.-272+566G>T
ENST00000591327.1:n.250G>T
ENST00000592320.5:c.236G>T	ENSP00000465320.1:p.Arg79Leu
NM_001131019.2:c.236G>T	NP_001124491.1:p.Arg79Leu
NM_001242376.1:c.236G>T	NP_001229305.1:p.Arg79Leu
NM_002055.4:c.236G>T	NP_002046.1:p.Arg79Leu
NM_001363846.1:c.236G>T	NP_001350775.1:p.Arg79Leu
XM_024450690.1:c.236G>T	XP_024306458.1:p.Arg79Leu
XM_024450691.1:c.236G>T	XP_024306459.1:p.Arg79Leu
XM_024450692.1:c.236G>T	XP_024306460.1:p.Arg79Leu
XM_024450693.1:c.236G>T	XP_024306461.1:p.Arg79Leu
NM_002055.5:c.236G>T MANE Select	NP_002046.1:p.Arg79Leu
NM_001131019.3:c.236G>T	NP_001124491.1:p.Arg79Leu
NM_001242376.2:c.236G>T	NP_001229305.1:p.Arg79Leu
NM_001242376.3:c.236G>T	NP_001229305.1:p.Arg79Leu
NM_001363846.2:c.236G>T	NP_001350775.1:p.Arg79Leu