Canonical Allele Identifier: CA217217

Gene: GFAP

Linked Data

• ClinVar Variation Id: 66502
• ClinVar RCV Id: RCV000056905 ; RCV000192141
• dbSNP Id: rs61726470
• MyVariant Identifiers: chr17:g.42990659G>C (hg19) ; chr17:g.44913291G>C (hg38)
• PubMed: PMID:15732097 ; PMID:15732098 ; PMID:20301351

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913291G>C , CM000679.2:g.44913291G>C	GRCh38
NC_000017.10:g.42990659G>C , CM000679.1:g.42990659G>C	GRCh37
NC_000017.9:g.40346185G>C	NCBI36
NG_008401.1:g.7256C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.758C>G	ENSP00000253408.5:p.Ala253Gly
ENST00000435360.8:c.758C>G	ENSP00000403962.1:p.Ala253Gly
ENST00000253408.10:c.758C>G	ENSP00000253408.5:p.Ala253Gly
ENST00000435360.7:c.758C>G	ENSP00000403962.1:p.Ala253Gly
ENST00000586127.6:n.1287C>G
ENST00000586793.6:c.758C>G	ENSP00000468500.2:p.Ala253Gly
ENST00000587997.6:n.234C>G
ENST00000588735.3:c.758C>G MANE Select	ENSP00000466598.2:p.Ala253Gly
ENST00000591327.2:n.1912C>G
ENST00000592320.6:c.618+437C>G	ENSP00000465320.1:n.618+437C>G
ENST00000638281.1:c.758C>G	ENSP00000491088.1:p.Ala253Gly
ENST00000638618.1:c.413C>G	ENSP00000492832.1:p.Ala138Gly
ENST00000639277.1:c.758C>G	ENSP00000492432.1:p.Ala253Gly
ENST00000640552.1:n.772C>G
ENST00000253408.9:c.758C>G	ENSP00000253408.4:p.Ala253Gly
ENST00000376990.8:c.*157C>G	ENSP00000366189.4:n.*157C>G
ENST00000435360.6:c.758C>G	ENSP00000403962.1:p.Ala253Gly
ENST00000586793.5:c.758C>G	ENSP00000468500.1:p.Ala253Gly
ENST00000587997.5:c.234C>G
ENST00000588316.1:c.662C>G	ENSP00000465629.1:p.Ala221Gly
ENST00000588735.1:c.82+2114C>G	ENSP00000466598.1:n.82+2114C>G
ENST00000588957.5:c.26C>G	ENSP00000465565.1:p.Ala9Gly
ENST00000590922.1:n.408C>G
ENST00000592320.5:c.618+437C>G	ENSP00000465320.1:n.618+437C>G
NM_001131019.2:c.758C>G	NP_001124491.1:p.Ala253Gly
NM_001242376.1:c.758C>G	NP_001229305.1:p.Ala253Gly
NM_002055.4:c.758C>G	NP_002046.1:p.Ala253Gly
NM_001363846.1:c.758C>G	NP_001350775.1:p.Ala253Gly
XM_024450690.1:c.962C>G	XP_024306458.1:p.Ala321Gly
XM_024450691.1:c.962C>G	XP_024306459.1:p.Ala321Gly
XM_024450692.1:c.962C>G	XP_024306460.1:p.Ala321Gly
XM_024450693.1:c.962C>G	XP_024306461.1:p.Ala321Gly
NM_002055.5:c.758C>G MANE Select	NP_002046.1:p.Ala253Gly
NM_001131019.3:c.758C>G	NP_001124491.1:p.Ala253Gly
NM_001242376.2:c.758C>G	NP_001229305.1:p.Ala253Gly
NM_001242376.3:c.758C>G	NP_001229305.1:p.Ala253Gly
NM_001363846.2:c.758C>G	NP_001350775.1:p.Ala253Gly