Canonical Allele Identifier: CA347206

Gene: GFAP

Linked Data

• ClinVar Variation Id: 190346
• ClinVar RCV Id: RCV000192145
• dbSNP Id: rs797044579
• MyVariant Identifiers: chr17:g.42989155A>G (hg19) ; chr17:g.44911787A>G (hg38)
• PubMed: PMID:20301351 ; PMID:21533827 ; PMID:24306001

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44911787A>G , CM000679.2:g.44911787A>G	GRCh38
NC_000017.10:g.42989155A>G , CM000679.1:g.42989155A>G	GRCh37
NC_000017.9:g.40344681A>G	NCBI36
NG_008401.1:g.8760T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.791T>C	ENSP00000253408.5:p.Leu264Pro
ENST00000435360.8:c.791T>C	ENSP00000403962.1:p.Leu264Pro
ENST00000253408.10:c.791T>C	ENSP00000253408.5:p.Leu264Pro
ENST00000435360.7:c.791T>C	ENSP00000403962.1:p.Leu264Pro
ENST00000586127.6:n.1320T>C
ENST00000586793.6:c.791T>C	ENSP00000468500.2:p.Leu264Pro
ENST00000587997.6:n.267T>C
ENST00000588735.3:c.791T>C MANE Select	ENSP00000466598.2:p.Leu264Pro
ENST00000591327.2:n.1945T>C
ENST00000592320.6:c.619-466T>C	ENSP00000465320.1:n.619-466T>C
ENST00000638281.1:c.791T>C	ENSP00000491088.1:p.Leu264Pro
ENST00000638618.1:c.446T>C	ENSP00000492832.1:p.Leu149Pro
ENST00000639277.1:c.791T>C	ENSP00000492432.1:p.Leu264Pro
ENST00000640552.1:n.805T>C
ENST00000253408.9:c.791T>C	ENSP00000253408.4:p.Leu264Pro
ENST00000376990.8:c.*190T>C	ENSP00000366189.4:n.*190T>C
ENST00000435360.6:c.791T>C	ENSP00000403962.1:p.Leu264Pro
ENST00000586793.5:c.791T>C	ENSP00000468500.1:p.Leu264Pro
ENST00000587997.5:c.267T>C
ENST00000588316.1:c.695T>C	ENSP00000465629.1:p.Leu232Pro
ENST00000588640.5:n.171T>C
ENST00000588735.1:c.82+3618T>C	ENSP00000466598.1:n.82+3618T>C
ENST00000588957.5:c.59T>C	ENSP00000465565.1:p.Leu20Pro
ENST00000590922.1:n.441T>C
ENST00000591719.5:n.425T>C
ENST00000592320.5:c.619-466T>C	ENSP00000465320.1:n.619-466T>C
NM_001131019.2:c.791T>C	NP_001124491.1:p.Leu264Pro
NM_001242376.1:c.791T>C	NP_001229305.1:p.Leu264Pro
NM_002055.4:c.791T>C	NP_002046.1:p.Leu264Pro
NM_001363846.1:c.791T>C	NP_001350775.1:p.Leu264Pro
XM_024450690.1:c.995T>C	XP_024306458.1:p.Leu332Pro
XM_024450691.1:c.995T>C	XP_024306459.1:p.Leu332Pro
XM_024450692.1:c.995T>C	XP_024306460.1:p.Leu332Pro
XM_024450693.1:c.995T>C	XP_024306461.1:p.Leu332Pro
NM_002055.5:c.791T>C MANE Select	NP_002046.1:p.Leu264Pro
NM_001131019.3:c.791T>C	NP_001124491.1:p.Leu264Pro
NM_001242376.2:c.791T>C	NP_001229305.1:p.Leu264Pro
NM_001242376.3:c.791T>C	NP_001229305.1:p.Leu264Pro
NM_001363846.2:c.791T>C	NP_001350775.1:p.Leu264Pro