Canonical Allele Identifier: CA399846370

Gene: GFAP

Linked Data

• ClinVar Variation Id: 2498707
• ClinVar RCV Id: RCV003222916
• dbSNP Id: rs2145638476
• gnomAD v4: 17-44913739-T-C
• MyVariant Identifiers: chr17:g.42991107T>C (hg19) ; chr17:g.44913739T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913739T>C , CM000679.2:g.44913739T>C	GRCh38
NC_000017.10:g.42991107T>C , CM000679.1:g.42991107T>C	GRCh37
NC_000017.9:g.40346633T>C	NCBI36
NG_008401.1:g.6808A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.607A>G	ENSP00000253408.5:p.Ile203Val
ENST00000435360.8:c.607A>G	ENSP00000403962.1:p.Ile203Val
ENST00000253408.10:c.607A>G	ENSP00000253408.5:p.Ile203Val
ENST00000435360.7:c.607A>G	ENSP00000403962.1:p.Ile203Val
ENST00000586127.6:n.1136A>G
ENST00000586793.6:c.607A>G	ENSP00000468500.2:p.Ile203Val
ENST00000588735.3:c.607A>G MANE Select	ENSP00000466598.2:p.Ile203Val
ENST00000591327.2:n.1761A>G
ENST00000592320.6:c.607A>G	ENSP00000465320.1:p.Ile203Val
ENST00000638281.1:c.607A>G	ENSP00000491088.1:p.Ile203Val
ENST00000638618.1:c.262A>G	ENSP00000492832.1:p.Ile88Val
ENST00000639277.1:c.607A>G	ENSP00000492432.1:p.Ile203Val
ENST00000640552.1:n.621A>G
ENST00000253408.9:c.607A>G	ENSP00000253408.4:p.Ile203Val
ENST00000376990.8:c.*6A>G	ENSP00000366189.4:n.*6A>G
ENST00000435360.6:c.607A>G	ENSP00000403962.1:p.Ile203Val
ENST00000585728.5:c.*251A>G	ENSP00000465208.1:n.*251A>G
ENST00000586127.5:c.-55A>G	ENSP00000464795.1:n.-55A>G
ENST00000586793.5:c.607A>G	ENSP00000468500.1:p.Ile203Val
ENST00000588316.1:c.522+289A>G	ENSP00000465629.1:n.522+289A>G
ENST00000588735.1:c.82+1666A>G	ENSP00000466598.1:n.82+1666A>G
ENST00000588957.5:c.-126A>G	ENSP00000465565.1:n.-126A>G
ENST00000591327.1:n.560A>G
ENST00000592320.5:c.607A>G	ENSP00000465320.1:p.Ile203Val
NM_001131019.2:c.607A>G	NP_001124491.1:p.Ile203Val
NM_001242376.1:c.607A>G	NP_001229305.1:p.Ile203Val
NM_002055.4:c.607A>G	NP_002046.1:p.Ile203Val
NM_001363846.1:c.607A>G	NP_001350775.1:p.Ile203Val
XM_024450690.1:c.811A>G	XP_024306458.1:p.Ile271Val
XM_024450691.1:c.811A>G	XP_024306459.1:p.Ile271Val
XM_024450692.1:c.811A>G	XP_024306460.1:p.Ile271Val
XM_024450693.1:c.811A>G	XP_024306461.1:p.Ile271Val
NM_002055.5:c.607A>G MANE Select	NP_002046.1:p.Ile203Val
NM_001131019.3:c.607A>G	NP_001124491.1:p.Ile203Val
NM_001242376.2:c.607A>G	NP_001229305.1:p.Ile203Val
NM_001242376.3:c.607A>G	NP_001229305.1:p.Ile203Val
NM_001363846.2:c.607A>G	NP_001350775.1:p.Ile203Val