Canonical Allele Identifier: CA399845704

Gene: GFAP

Linked Data

• ClinVar Variation Id: 1482058
• ClinVar RCV Id: RCV001994399
• dbSNP Id: rs2145637339
• MyVariant Identifiers: chr17:g.42990699T>G (hg19) ; chr17:g.44913331T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913331T>G , CM000679.2:g.44913331T>G	GRCh38
NC_000017.10:g.42990699T>G , CM000679.1:g.42990699T>G	GRCh37
NC_000017.9:g.40346225T>G	NCBI36
NG_008401.1:g.7216A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.718A>C	ENSP00000253408.5:p.Thr240Pro
ENST00000435360.8:c.718A>C	ENSP00000403962.1:p.Thr240Pro
ENST00000253408.10:c.718A>C	ENSP00000253408.5:p.Thr240Pro
ENST00000435360.7:c.718A>C	ENSP00000403962.1:p.Thr240Pro
ENST00000586127.6:n.1247A>C
ENST00000586793.6:c.718A>C	ENSP00000468500.2:p.Thr240Pro
ENST00000587997.6:n.194A>C
ENST00000588735.3:c.718A>C MANE Select	ENSP00000466598.2:p.Thr240Pro
ENST00000591327.2:n.1872A>C
ENST00000592320.6:c.618+397A>C	ENSP00000465320.1:n.618+397A>C
ENST00000638281.1:c.718A>C	ENSP00000491088.1:p.Thr240Pro
ENST00000638618.1:c.373A>C	ENSP00000492832.1:p.Thr125Pro
ENST00000639277.1:c.718A>C	ENSP00000492432.1:p.Thr240Pro
ENST00000640552.1:n.732A>C
ENST00000253408.9:c.718A>C	ENSP00000253408.4:p.Thr240Pro
ENST00000376990.8:c.*117A>C	ENSP00000366189.4:n.*117A>C
ENST00000435360.6:c.718A>C	ENSP00000403962.1:p.Thr240Pro
ENST00000585728.5:c.*362A>C	ENSP00000465208.1:n.*362A>C
ENST00000586793.5:c.718A>C	ENSP00000468500.1:p.Thr240Pro
ENST00000587997.5:c.194A>C
ENST00000588316.1:c.622A>C	ENSP00000465629.1:p.Thr208Pro
ENST00000588735.1:c.82+2074A>C	ENSP00000466598.1:n.82+2074A>C
ENST00000588957.5:c.-15A>C	ENSP00000465565.1:n.-15A>C
ENST00000590922.1:n.368A>C
ENST00000592320.5:c.618+397A>C	ENSP00000465320.1:n.618+397A>C
NM_001131019.2:c.718A>C	NP_001124491.1:p.Thr240Pro
NM_001242376.1:c.718A>C	NP_001229305.1:p.Thr240Pro
NM_002055.4:c.718A>C	NP_002046.1:p.Thr240Pro
NM_001363846.1:c.718A>C	NP_001350775.1:p.Thr240Pro
XM_024450690.1:c.922A>C	XP_024306458.1:p.Thr308Pro
XM_024450691.1:c.922A>C	XP_024306459.1:p.Thr308Pro
XM_024450692.1:c.922A>C	XP_024306460.1:p.Thr308Pro
XM_024450693.1:c.922A>C	XP_024306461.1:p.Thr308Pro
NM_002055.5:c.718A>C MANE Select	NP_002046.1:p.Thr240Pro
NM_001131019.3:c.718A>C	NP_001124491.1:p.Thr240Pro
NM_001242376.2:c.718A>C	NP_001229305.1:p.Thr240Pro
NM_001242376.3:c.718A>C	NP_001229305.1:p.Thr240Pro
NM_001363846.2:c.718A>C	NP_001350775.1:p.Thr240Pro