Canonical Allele Identifier: CA8608877

Gene: GFAP

Linked Data

• ClinVar Variation Id: 323615
• ClinVar RCV Id: RCV000675413 ; RCV001288190 ; RCV003940278
• dbSNP Id: rs2229012
• ExAC: 17:42990697 C / A
• gnomAD v2: 17-42990697-C-A
• gnomAD v3: 17-44913329-C-A
• gnomAD v4: 17-44913329-C-A
• MyVariant Identifiers: chr17:g.42990697C>A (hg19) ; chr17:g.44913329C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913329C>A , CM000679.2:g.44913329C>A	GRCh38
NC_000017.10:g.42990697C>A , CM000679.1:g.42990697C>A	GRCh37
NC_000017.9:g.40346223C>A	NCBI36
NG_008401.1:g.7218G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.720G>T	ENSP00000253408.5:p.Thr240=
ENST00000435360.8:c.720G>T	ENSP00000403962.1:p.Thr240=
ENST00000253408.10:c.720G>T	ENSP00000253408.5:p.Thr240=
ENST00000435360.7:c.720G>T	ENSP00000403962.1:p.Thr240=
ENST00000586127.6:n.1249G>T
ENST00000586793.6:c.720G>T	ENSP00000468500.2:p.Thr240=
ENST00000587997.6:n.196G>T
ENST00000588735.3:c.720G>T MANE Select	ENSP00000466598.2:p.Thr240=
ENST00000591327.2:n.1874G>T
ENST00000592320.6:c.618+399G>T	ENSP00000465320.1:n.618+399G>T
ENST00000638281.1:c.720G>T	ENSP00000491088.1:p.Thr240=
ENST00000638618.1:c.375G>T	ENSP00000492832.1:p.Thr125=
ENST00000639277.1:c.720G>T	ENSP00000492432.1:p.Thr240=
ENST00000640552.1:n.734G>T
ENST00000253408.9:c.720G>T	ENSP00000253408.4:p.Thr240=
ENST00000376990.8:c.*119G>T	ENSP00000366189.4:n.*119G>T
ENST00000435360.6:c.720G>T	ENSP00000403962.1:p.Thr240=
ENST00000585728.5:c.*364G>T	ENSP00000465208.1:n.*364G>T
ENST00000586793.5:c.720G>T	ENSP00000468500.1:p.Thr240=
ENST00000587997.5:c.196G>T
ENST00000588316.1:c.624G>T	ENSP00000465629.1:p.Thr208=
ENST00000588735.1:c.82+2076G>T	ENSP00000466598.1:n.82+2076G>T
ENST00000588957.5:c.-13G>T	ENSP00000465565.1:n.-13G>T
ENST00000590922.1:n.370G>T
ENST00000592320.5:c.618+399G>T	ENSP00000465320.1:n.618+399G>T
NM_001131019.2:c.720G>T	NP_001124491.1:p.Thr240=
NM_001242376.1:c.720G>T	NP_001229305.1:p.Thr240=
NM_002055.4:c.720G>T	NP_002046.1:p.Thr240=
NM_001363846.1:c.720G>T	NP_001350775.1:p.Thr240=
XM_024450690.1:c.924G>T	XP_024306458.1:p.Thr308=
XM_024450691.1:c.924G>T	XP_024306459.1:p.Thr308=
XM_024450692.1:c.924G>T	XP_024306460.1:p.Thr308=
XM_024450693.1:c.924G>T	XP_024306461.1:p.Thr308=
NM_002055.5:c.720G>T MANE Select	NP_002046.1:p.Thr240=
NM_001131019.3:c.720G>T	NP_001124491.1:p.Thr240=
NM_001242376.2:c.720G>T	NP_001229305.1:p.Thr240=
NM_001242376.3:c.720G>T	NP_001229305.1:p.Thr240=
NM_001363846.2:c.720G>T	NP_001350775.1:p.Thr240=