Canonical Allele Identifier: CA217160

Gene: GFAP

Linked Data

• ClinVar Variation Id: 16174
• ClinVar RCV Id: RCV000017557 ; RCV000056863
• dbSNP Id: rs57120761
• MyVariant Identifiers: chr17:g.42992629G>A (hg19) ; chr17:g.44915261G>A (hg38)
• PubMed: PMID:11567214 ; PMID:15732097 ; PMID:20301351

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44915261G>A , CM000679.2:g.44915261G>A	GRCh38
NC_000017.10:g.42992629G>A , CM000679.1:g.42992629G>A	GRCh37
NC_000017.9:g.40348155G>A	NCBI36
NG_008401.1:g.5286C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.226C>T	ENSP00000253408.5:p.Leu76Phe
ENST00000435360.8:c.226C>T	ENSP00000403962.1:p.Leu76Phe
ENST00000253408.10:c.226C>T	ENSP00000253408.5:p.Leu76Phe
ENST00000435360.7:c.226C>T	ENSP00000403962.1:p.Leu76Phe
ENST00000586793.6:c.226C>T	ENSP00000468500.2:p.Leu76Phe
ENST00000588735.3:c.226C>T MANE Select	ENSP00000466598.2:p.Leu76Phe
ENST00000591327.2:n.239C>T
ENST00000592320.6:c.226C>T	ENSP00000465320.1:p.Leu76Phe
ENST00000638281.1:c.226C>T	ENSP00000491088.1:p.Leu76Phe
ENST00000639277.1:c.226C>T	ENSP00000492432.1:p.Leu76Phe
ENST00000640552.1:n.240C>T
ENST00000253408.9:c.226C>T	ENSP00000253408.4:p.Leu76Phe
ENST00000376990.8:c.226C>T	ENSP00000366189.4:p.Leu76Phe
ENST00000435360.6:c.226C>T	ENSP00000403962.1:p.Leu76Phe
ENST00000585728.5:c.181+45C>T	ENSP00000465208.1:n.181+45C>T
ENST00000586793.5:c.226C>T	ENSP00000468500.1:p.Leu76Phe
ENST00000588037.1:c.226C>T	ENSP00000466163.1:p.Leu76Phe
ENST00000588316.1:c.226C>T	ENSP00000465629.1:p.Leu76Phe
ENST00000588735.1:c.82+144C>T	ENSP00000466598.1:n.82+144C>T
ENST00000588957.5:c.-272+556C>T	ENSP00000465565.1:n.-272+556C>T
ENST00000591327.1:n.240C>T
ENST00000592320.5:c.226C>T	ENSP00000465320.1:p.Leu76Phe
NM_001131019.2:c.226C>T	NP_001124491.1:p.Leu76Phe
NM_001242376.1:c.226C>T	NP_001229305.1:p.Leu76Phe
NM_002055.4:c.226C>T	NP_002046.1:p.Leu76Phe
NM_001363846.1:c.226C>T	NP_001350775.1:p.Leu76Phe
XM_024450690.1:c.226C>T	XP_024306458.1:p.Leu76Phe
XM_024450691.1:c.226C>T	XP_024306459.1:p.Leu76Phe
XM_024450692.1:c.226C>T	XP_024306460.1:p.Leu76Phe
XM_024450693.1:c.226C>T	XP_024306461.1:p.Leu76Phe
NM_002055.5:c.226C>T MANE Select	NP_002046.1:p.Leu76Phe
NM_001131019.3:c.226C>T	NP_001124491.1:p.Leu76Phe
NM_001242376.2:c.226C>T	NP_001229305.1:p.Leu76Phe
NM_001242376.3:c.226C>T	NP_001229305.1:p.Leu76Phe
NM_001363846.2:c.226C>T	NP_001350775.1:p.Leu76Phe