Canonical Allele Identifier: CA8608878

Gene: GFAP

Linked Data

• ClinVar Variation Id: 2432112
• ClinVar RCV Id: RCV003135360
• dbSNP Id: rs777180711
• ExAC: 17:42990698 G / A
• gnomAD v2: 17-42990698-G-A
• gnomAD v3: 17-44913330-G-A
• gnomAD v4: 17-44913330-G-A
• MyVariant Identifiers: chr17:g.42990698G>A (hg19) ; chr17:g.44913330G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913330G>A , CM000679.2:g.44913330G>A	GRCh38
NC_000017.10:g.42990698G>A , CM000679.1:g.42990698G>A	GRCh37
NC_000017.9:g.40346224G>A	NCBI36
NG_008401.1:g.7217C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.719C>T	ENSP00000253408.5:p.Thr240Met
ENST00000435360.8:c.719C>T	ENSP00000403962.1:p.Thr240Met
ENST00000253408.10:c.719C>T	ENSP00000253408.5:p.Thr240Met
ENST00000435360.7:c.719C>T	ENSP00000403962.1:p.Thr240Met
ENST00000586127.6:n.1248C>T
ENST00000586793.6:c.719C>T	ENSP00000468500.2:p.Thr240Met
ENST00000587997.6:n.195C>T
ENST00000588735.3:c.719C>T MANE Select	ENSP00000466598.2:p.Thr240Met
ENST00000591327.2:n.1873C>T
ENST00000592320.6:c.618+398C>T	ENSP00000465320.1:n.618+398C>T
ENST00000638281.1:c.719C>T	ENSP00000491088.1:p.Thr240Met
ENST00000638618.1:c.374C>T	ENSP00000492832.1:p.Thr125Met
ENST00000639277.1:c.719C>T	ENSP00000492432.1:p.Thr240Met
ENST00000640552.1:n.733C>T
ENST00000253408.9:c.719C>T	ENSP00000253408.4:p.Thr240Met
ENST00000376990.8:c.*118C>T	ENSP00000366189.4:n.*118C>T
ENST00000435360.6:c.719C>T	ENSP00000403962.1:p.Thr240Met
ENST00000585728.5:c.*363C>T	ENSP00000465208.1:n.*363C>T
ENST00000586793.5:c.719C>T	ENSP00000468500.1:p.Thr240Met
ENST00000587997.5:c.195C>T
ENST00000588316.1:c.623C>T	ENSP00000465629.1:p.Thr208Met
ENST00000588735.1:c.82+2075C>T	ENSP00000466598.1:n.82+2075C>T
ENST00000588957.5:c.-14C>T	ENSP00000465565.1:n.-14C>T
ENST00000590922.1:n.369C>T
ENST00000592320.5:c.618+398C>T	ENSP00000465320.1:n.618+398C>T
NM_001131019.2:c.719C>T	NP_001124491.1:p.Thr240Met
NM_001242376.1:c.719C>T	NP_001229305.1:p.Thr240Met
NM_002055.4:c.719C>T	NP_002046.1:p.Thr240Met
NM_001363846.1:c.719C>T	NP_001350775.1:p.Thr240Met
XM_024450690.1:c.923C>T	XP_024306458.1:p.Thr308Met
XM_024450691.1:c.923C>T	XP_024306459.1:p.Thr308Met
XM_024450692.1:c.923C>T	XP_024306460.1:p.Thr308Met
XM_024450693.1:c.923C>T	XP_024306461.1:p.Thr308Met
NM_002055.5:c.719C>T MANE Select	NP_002046.1:p.Thr240Met
NM_001131019.3:c.719C>T	NP_001124491.1:p.Thr240Met
NM_001242376.2:c.719C>T	NP_001229305.1:p.Thr240Met
NM_001242376.3:c.719C>T	NP_001229305.1:p.Thr240Met
NM_001363846.2:c.719C>T	NP_001350775.1:p.Thr240Met