Canonical Allele Identifier: CA8609058

Gene: GFAP

Linked Data

• dbSNP Id: rs766832216
• ExAC: 17:42992517 G / A
• gnomAD v2: 17-42992517-G-A
• gnomAD v4: 17-44915149-G-A
• COSMIC: COSM4130151 ; COSM4130152
• MyVariant Identifiers: chr17:g.42992517G>A (hg19) ; chr17:g.44915149G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44915149G>A , CM000679.2:g.44915149G>A	GRCh38
NC_000017.10:g.42992517G>A , CM000679.1:g.42992517G>A	GRCh37
NC_000017.9:g.40348043G>A	NCBI36
NG_008401.1:g.5398C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.338C>T	ENSP00000253408.5:p.Ala113Val
ENST00000435360.8:c.338C>T	ENSP00000403962.1:p.Ala113Val
ENST00000253408.10:c.338C>T	ENSP00000253408.5:p.Ala113Val
ENST00000435360.7:c.338C>T	ENSP00000403962.1:p.Ala113Val
ENST00000586793.6:c.338C>T	ENSP00000468500.2:p.Ala113Val
ENST00000588735.3:c.338C>T MANE Select	ENSP00000466598.2:p.Ala113Val
ENST00000591327.2:n.351C>T
ENST00000592320.6:c.338C>T	ENSP00000465320.1:p.Ala113Val
ENST00000638281.1:c.338C>T	ENSP00000491088.1:p.Ala113Val
ENST00000639277.1:c.338C>T	ENSP00000492432.1:p.Ala113Val
ENST00000640552.1:n.352C>T
ENST00000253408.9:c.338C>T	ENSP00000253408.4:p.Ala113Val
ENST00000376990.8:c.338C>T	ENSP00000366189.4:p.Ala113Val
ENST00000435360.6:c.338C>T	ENSP00000403962.1:p.Ala113Val
ENST00000585728.5:c.182-14C>T	ENSP00000465208.1:n.182-14C>T
ENST00000586793.5:c.338C>T	ENSP00000468500.1:p.Ala113Val
ENST00000588037.1:c.338C>T	ENSP00000466163.1:p.Ala113Val
ENST00000588316.1:c.338C>T	ENSP00000465629.1:p.Ala113Val
ENST00000588735.1:c.82+256C>T	ENSP00000466598.1:n.82+256C>T
ENST00000588957.5:c.-272+668C>T	ENSP00000465565.1:n.-272+668C>T
ENST00000591327.1:n.352C>T
ENST00000592320.5:c.338C>T	ENSP00000465320.1:p.Ala113Val
NM_001131019.2:c.338C>T	NP_001124491.1:p.Ala113Val
NM_001242376.1:c.338C>T	NP_001229305.1:p.Ala113Val
NM_002055.4:c.338C>T	NP_002046.1:p.Ala113Val
NM_001363846.1:c.338C>T	NP_001350775.1:p.Ala113Val
XM_024450690.1:c.338C>T	XP_024306458.1:p.Ala113Val
XM_024450691.1:c.338C>T	XP_024306459.1:p.Ala113Val
XM_024450692.1:c.338C>T	XP_024306460.1:p.Ala113Val
XM_024450693.1:c.338C>T	XP_024306461.1:p.Ala113Val
NM_002055.5:c.338C>T MANE Select	NP_002046.1:p.Ala113Val
NM_001131019.3:c.338C>T	NP_001124491.1:p.Ala113Val
NM_001242376.2:c.338C>T	NP_001229305.1:p.Ala113Val
NM_001242376.3:c.338C>T	NP_001229305.1:p.Ala113Val
NM_001363846.2:c.338C>T	NP_001350775.1:p.Ala113Val