Canonical Allele Identifier: CA399845453

Gene: GFAP

Linked Data

• dbSNP Id: rs2051814885
• gnomAD v3: 17-44913280-A-G
• gnomAD v4: 17-44913280-A-G
• MyVariant Identifiers: chr17:g.42990648A>G (hg19) ; chr17:g.44913280A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913280A>G , CM000679.2:g.44913280A>G	GRCh38
NC_000017.10:g.42990648A>G , CM000679.1:g.42990648A>G	GRCh37
NC_000017.9:g.40346174A>G	NCBI36
NG_008401.1:g.7267T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.769T>C	ENSP00000253408.5:p.Tyr257His
ENST00000435360.8:c.769T>C	ENSP00000403962.1:p.Tyr257His
ENST00000253408.10:c.769T>C	ENSP00000253408.5:p.Tyr257His
ENST00000435360.7:c.769T>C	ENSP00000403962.1:p.Tyr257His
ENST00000586127.6:n.1298T>C
ENST00000586793.6:c.769T>C	ENSP00000468500.2:p.Tyr257His
ENST00000587997.6:n.245T>C
ENST00000588735.3:c.769T>C MANE Select	ENSP00000466598.2:p.Tyr257His
ENST00000591327.2:n.1923T>C
ENST00000592320.6:c.618+448T>C	ENSP00000465320.1:n.618+448T>C
ENST00000638281.1:c.769T>C	ENSP00000491088.1:p.Tyr257His
ENST00000638618.1:c.424T>C	ENSP00000492832.1:p.Tyr142His
ENST00000639277.1:c.769T>C	ENSP00000492432.1:p.Tyr257His
ENST00000640552.1:n.783T>C
ENST00000253408.9:c.769T>C	ENSP00000253408.4:p.Tyr257His
ENST00000376990.8:c.*168T>C	ENSP00000366189.4:n.*168T>C
ENST00000435360.6:c.769T>C	ENSP00000403962.1:p.Tyr257His
ENST00000586793.5:c.769T>C	ENSP00000468500.1:p.Tyr257His
ENST00000587997.5:c.245T>C
ENST00000588316.1:c.673T>C	ENSP00000465629.1:p.Tyr225His
ENST00000588735.1:c.82+2125T>C	ENSP00000466598.1:n.82+2125T>C
ENST00000588957.5:c.37T>C	ENSP00000465565.1:p.Tyr13His
ENST00000590922.1:n.419T>C
ENST00000592320.5:c.618+448T>C	ENSP00000465320.1:n.618+448T>C
NM_001131019.2:c.769T>C	NP_001124491.1:p.Tyr257His
NM_001242376.1:c.769T>C	NP_001229305.1:p.Tyr257His
NM_002055.4:c.769T>C	NP_002046.1:p.Tyr257His
NM_001363846.1:c.769T>C	NP_001350775.1:p.Tyr257His
XM_024450690.1:c.973T>C	XP_024306458.1:p.Tyr325His
XM_024450691.1:c.973T>C	XP_024306459.1:p.Tyr325His
XM_024450692.1:c.973T>C	XP_024306460.1:p.Tyr325His
XM_024450693.1:c.973T>C	XP_024306461.1:p.Tyr325His
NM_002055.5:c.769T>C MANE Select	NP_002046.1:p.Tyr257His
NM_001131019.3:c.769T>C	NP_001124491.1:p.Tyr257His
NM_001242376.2:c.769T>C	NP_001229305.1:p.Tyr257His
NM_001242376.3:c.769T>C	NP_001229305.1:p.Tyr257His
NM_001363846.2:c.769T>C	NP_001350775.1:p.Tyr257His