Canonical Allele Identifier: CA8608881

Gene: GFAP

Linked Data

• ClinVar Variation Id: 2182034
• ClinVar RCV Id: RCV002610645
• dbSNP Id: rs752795119
• ExAC: 17:42990721 G / A
• gnomAD v2: 17-42990721-G-A
• gnomAD v3: 17-44913353-G-A
• gnomAD v4: 17-44913353-G-A
• MyVariant Identifiers: chr17:g.42990721G>A (hg19) ; chr17:g.44913353G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913353G>A , CM000679.2:g.44913353G>A	GRCh38
NC_000017.10:g.42990721G>A , CM000679.1:g.42990721G>A	GRCh37
NC_000017.9:g.40346247G>A	NCBI36
NG_008401.1:g.7194C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.696C>T	ENSP00000253408.5:p.Thr232=
ENST00000435360.8:c.696C>T	ENSP00000403962.1:p.Thr232=
ENST00000253408.10:c.696C>T	ENSP00000253408.5:p.Thr232=
ENST00000435360.7:c.696C>T	ENSP00000403962.1:p.Thr232=
ENST00000586127.6:n.1225C>T
ENST00000586793.6:c.696C>T	ENSP00000468500.2:p.Thr232=
ENST00000587997.6:n.172C>T
ENST00000588735.3:c.696C>T MANE Select	ENSP00000466598.2:p.Thr232=
ENST00000591327.2:n.1850C>T
ENST00000592320.6:c.618+375C>T	ENSP00000465320.1:n.618+375C>T
ENST00000638281.1:c.696C>T	ENSP00000491088.1:p.Thr232=
ENST00000638618.1:c.351C>T	ENSP00000492832.1:p.Thr117=
ENST00000639277.1:c.696C>T	ENSP00000492432.1:p.Thr232=
ENST00000640552.1:n.710C>T
ENST00000253408.9:c.696C>T	ENSP00000253408.4:p.Thr232=
ENST00000376990.8:c.*95C>T	ENSP00000366189.4:n.*95C>T
ENST00000435360.6:c.696C>T	ENSP00000403962.1:p.Thr232=
ENST00000585728.5:c.*340C>T	ENSP00000465208.1:n.*340C>T
ENST00000586127.5:c.35C>T	ENSP00000464795.1:p.Pro12Leu
ENST00000586793.5:c.696C>T	ENSP00000468500.1:p.Thr232=
ENST00000587997.5:c.172C>T
ENST00000588316.1:c.600C>T	ENSP00000465629.1:p.Thr200=
ENST00000588735.1:c.82+2052C>T	ENSP00000466598.1:n.82+2052C>T
ENST00000588957.5:c.-37C>T	ENSP00000465565.1:n.-37C>T
ENST00000590922.1:n.346C>T
ENST00000592320.5:c.618+375C>T	ENSP00000465320.1:n.618+375C>T
NM_001131019.2:c.696C>T	NP_001124491.1:p.Thr232=
NM_001242376.1:c.696C>T	NP_001229305.1:p.Thr232=
NM_002055.4:c.696C>T	NP_002046.1:p.Thr232=
NM_001363846.1:c.696C>T	NP_001350775.1:p.Thr232=
XM_024450690.1:c.900C>T	XP_024306458.1:p.Thr300=
XM_024450691.1:c.900C>T	XP_024306459.1:p.Thr300=
XM_024450692.1:c.900C>T	XP_024306460.1:p.Thr300=
XM_024450693.1:c.900C>T	XP_024306461.1:p.Thr300=
NM_002055.5:c.696C>T MANE Select	NP_002046.1:p.Thr232=
NM_001131019.3:c.696C>T	NP_001124491.1:p.Thr232=
NM_001242376.2:c.696C>T	NP_001229305.1:p.Thr232=
NM_001242376.3:c.696C>T	NP_001229305.1:p.Thr232=
NM_001363846.2:c.696C>T	NP_001350775.1:p.Thr232=