Canonical Allele Identifier: CA399845768

Gene: GFAP

Linked Data

• ClinVar Variation Id: 1032795
• ClinVar RCV Id: RCV001334994
• dbSNP Id: rs1220287768
• gnomAD v2: 17-42990720-C-T
• gnomAD v3: 17-44913352-C-T
• gnomAD v4: 17-44913352-C-T
• COSMIC: COSM980066 ; COSM1588900
• MyVariant Identifiers: chr17:g.42990720C>T (hg19) ; chr17:g.44913352C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913352C>T , CM000679.2:g.44913352C>T	GRCh38
NC_000017.10:g.42990720C>T , CM000679.1:g.42990720C>T	GRCh37
NC_000017.9:g.40346246C>T	NCBI36
NG_008401.1:g.7195G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.697G>A	ENSP00000253408.5:p.Ala233Thr
ENST00000435360.8:c.697G>A	ENSP00000403962.1:p.Ala233Thr
ENST00000253408.10:c.697G>A	ENSP00000253408.5:p.Ala233Thr
ENST00000435360.7:c.697G>A	ENSP00000403962.1:p.Ala233Thr
ENST00000586127.6:n.1226G>A
ENST00000586793.6:c.697G>A	ENSP00000468500.2:p.Ala233Thr
ENST00000587997.6:n.173G>A
ENST00000588735.3:c.697G>A MANE Select	ENSP00000466598.2:p.Ala233Thr
ENST00000591327.2:n.1851G>A
ENST00000592320.6:c.618+376G>A	ENSP00000465320.1:n.618+376G>A
ENST00000638281.1:c.697G>A	ENSP00000491088.1:p.Ala233Thr
ENST00000638618.1:c.352G>A	ENSP00000492832.1:p.Ala118Thr
ENST00000639277.1:c.697G>A	ENSP00000492432.1:p.Ala233Thr
ENST00000640552.1:n.711G>A
ENST00000253408.9:c.697G>A	ENSP00000253408.4:p.Ala233Thr
ENST00000376990.8:c.*96G>A	ENSP00000366189.4:n.*96G>A
ENST00000435360.6:c.697G>A	ENSP00000403962.1:p.Ala233Thr
ENST00000585728.5:c.*341G>A	ENSP00000465208.1:n.*341G>A
ENST00000586127.5:c.36G>A	ENSP00000464795.1:p.Pro12=
ENST00000586793.5:c.697G>A	ENSP00000468500.1:p.Ala233Thr
ENST00000587997.5:c.173G>A
ENST00000588316.1:c.601G>A	ENSP00000465629.1:p.Ala201Thr
ENST00000588735.1:c.82+2053G>A	ENSP00000466598.1:n.82+2053G>A
ENST00000588957.5:c.-36G>A	ENSP00000465565.1:n.-36G>A
ENST00000590922.1:n.347G>A
ENST00000592320.5:c.618+376G>A	ENSP00000465320.1:n.618+376G>A
NM_001131019.2:c.697G>A	NP_001124491.1:p.Ala233Thr
NM_001242376.1:c.697G>A	NP_001229305.1:p.Ala233Thr
NM_002055.4:c.697G>A	NP_002046.1:p.Ala233Thr
NM_001363846.1:c.697G>A	NP_001350775.1:p.Ala233Thr
XM_024450690.1:c.901G>A	XP_024306458.1:p.Ala301Thr
XM_024450691.1:c.901G>A	XP_024306459.1:p.Ala301Thr
XM_024450692.1:c.901G>A	XP_024306460.1:p.Ala301Thr
XM_024450693.1:c.901G>A	XP_024306461.1:p.Ala301Thr
NM_002055.5:c.697G>A MANE Select	NP_002046.1:p.Ala233Thr
NM_001131019.3:c.697G>A	NP_001124491.1:p.Ala233Thr
NM_001242376.2:c.697G>A	NP_001229305.1:p.Ala233Thr
NM_001242376.3:c.697G>A	NP_001229305.1:p.Ala233Thr
NM_001363846.2:c.697G>A	NP_001350775.1:p.Ala233Thr