Canonical Allele Identifier: CA217206

Gene: GFAP

Linked Data

• ClinVar Variation Id: 66495
• ClinVar RCV Id: RCV000056896 ; RCV000192133
• dbSNP Id: rs60269890
• MyVariant Identifiers: chr17:g.42990713A>G (hg19) ; chr17:g.44913345A>G (hg38)
• PubMed: PMID:15732097 ; PMID:15732098 ; PMID:20301351

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913345A>G , CM000679.2:g.44913345A>G	GRCh38
NC_000017.10:g.42990713A>G , CM000679.1:g.42990713A>G	GRCh37
NC_000017.9:g.40346239A>G	NCBI36
NG_008401.1:g.7202T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.704T>C	ENSP00000253408.5:p.Leu235Pro
ENST00000435360.8:c.704T>C	ENSP00000403962.1:p.Leu235Pro
ENST00000253408.10:c.704T>C	ENSP00000253408.5:p.Leu235Pro
ENST00000435360.7:c.704T>C	ENSP00000403962.1:p.Leu235Pro
ENST00000586127.6:n.1233T>C
ENST00000586793.6:c.704T>C	ENSP00000468500.2:p.Leu235Pro
ENST00000587997.6:n.180T>C
ENST00000588735.3:c.704T>C MANE Select	ENSP00000466598.2:p.Leu235Pro
ENST00000591327.2:n.1858T>C
ENST00000592320.6:c.618+383T>C	ENSP00000465320.1:n.618+383T>C
ENST00000638281.1:c.704T>C	ENSP00000491088.1:p.Leu235Pro
ENST00000638618.1:c.359T>C	ENSP00000492832.1:p.Leu120Pro
ENST00000639277.1:c.704T>C	ENSP00000492432.1:p.Leu235Pro
ENST00000640552.1:n.718T>C
ENST00000253408.9:c.704T>C	ENSP00000253408.4:p.Leu235Pro
ENST00000376990.8:c.*103T>C	ENSP00000366189.4:n.*103T>C
ENST00000435360.6:c.704T>C	ENSP00000403962.1:p.Leu235Pro
ENST00000585728.5:c.*348T>C	ENSP00000465208.1:n.*348T>C
ENST00000586793.5:c.704T>C	ENSP00000468500.1:p.Leu235Pro
ENST00000587997.5:c.180T>C
ENST00000588316.1:c.608T>C	ENSP00000465629.1:p.Leu203Pro
ENST00000588735.1:c.82+2060T>C	ENSP00000466598.1:n.82+2060T>C
ENST00000588957.5:c.-29T>C	ENSP00000465565.1:n.-29T>C
ENST00000590922.1:n.354T>C
ENST00000592320.5:c.618+383T>C	ENSP00000465320.1:n.618+383T>C
NM_001131019.2:c.704T>C	NP_001124491.1:p.Leu235Pro
NM_001242376.1:c.704T>C	NP_001229305.1:p.Leu235Pro
NM_002055.4:c.704T>C	NP_002046.1:p.Leu235Pro
NM_001363846.1:c.704T>C	NP_001350775.1:p.Leu235Pro
XM_024450690.1:c.908T>C	XP_024306458.1:p.Leu303Pro
XM_024450691.1:c.908T>C	XP_024306459.1:p.Leu303Pro
XM_024450692.1:c.908T>C	XP_024306460.1:p.Leu303Pro
XM_024450693.1:c.908T>C	XP_024306461.1:p.Leu303Pro
NM_002055.5:c.704T>C MANE Select	NP_002046.1:p.Leu235Pro
NM_001131019.3:c.704T>C	NP_001124491.1:p.Leu235Pro
NM_001242376.2:c.704T>C	NP_001229305.1:p.Leu235Pro
NM_001242376.3:c.704T>C	NP_001229305.1:p.Leu235Pro
NM_001363846.2:c.704T>C	NP_001350775.1:p.Leu235Pro