Canonical Allele Identifier: CA217230

Gene: GFAP

Linked Data

• ClinVar Variation Id: 66511
• ClinVar RCV Id: RCV000056915
• dbSNP Id: rs8067029
• gnomAD v2: 17-42988924-T-G
• gnomAD v3: 17-44911556-T-G
• gnomAD v4: 17-44911556-T-G
• MyVariant Identifiers: chr17:g.42988924T>G (hg19) ; chr17:g.44911556T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44911556T>G , CM000679.2:g.44911556T>G	GRCh38
NC_000017.10:g.42988924T>G , CM000679.1:g.42988924T>G	GRCh37
NC_000017.9:g.40344450T>G	NCBI36
NG_008401.1:g.8991A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.907-100A>C	ENSP00000253408.5:n.907-100A>C
ENST00000435360.8:c.907-100A>C	ENSP00000403962.1:n.907-100A>C
ENST00000253408.10:c.907-100A>C	ENSP00000253408.5:n.907-100A>C
ENST00000435360.7:c.907-100A>C	ENSP00000403962.1:n.907-100A>C
ENST00000586127.6:n.1436-100A>C
ENST00000586793.6:c.906+116A>C	ENSP00000468500.2:n.906+116A>C
ENST00000587997.6:n.383-100A>C
ENST00000588735.3:c.907-100A>C MANE Select	ENSP00000466598.2:n.907-100A>C
ENST00000591327.2:n.2061-100A>C
ENST00000592320.6:c.619-235A>C	ENSP00000465320.1:n.619-235A>C
ENST00000638281.1:c.907-100A>C	ENSP00000491088.1:n.907-100A>C
ENST00000638618.1:c.562-100A>C	ENSP00000492832.1:n.562-100A>C
ENST00000639277.1:c.907-100A>C	ENSP00000492432.1:n.907-100A>C
ENST00000640552.1:n.921-100A>C
ENST00000253408.9:c.907-100A>C	ENSP00000253408.4:n.907-100A>C
ENST00000376990.8:c.*306-100A>C	ENSP00000366189.4:n.*306-100A>C
ENST00000435360.6:c.907-100A>C	ENSP00000403962.1:n.907-100A>C
ENST00000586793.5:c.907-100A>C	ENSP00000468500.1:n.907-100A>C
ENST00000587997.5:c.383-100A>C
ENST00000588640.5:n.287-100A>C
ENST00000588735.1:c.83-3440A>C	ENSP00000466598.1:n.83-3440A>C
ENST00000591719.5:n.541-100A>C
ENST00000592320.5:c.619-235A>C	ENSP00000465320.1:n.619-235A>C
NM_001131019.2:c.907-100A>C	NP_001124491.1:n.907-100A>C
NM_001242376.1:c.907-100A>C	NP_001229305.1:n.907-100A>C
NM_002055.4:c.907-100A>C	NP_002046.1:n.907-100A>C
NM_001363846.1:c.907-100A>C	NP_001350775.1:n.907-100A>C
XM_024450690.1:c.1111-100A>C	XP_024306458.1:n.1111-100A>C
XM_024450691.1:c.1111-100A>C	XP_024306459.1:n.1111-100A>C
XM_024450692.1:c.1111-100A>C	XP_024306460.1:n.1111-100A>C
XM_024450693.1:c.1111-100A>C	XP_024306461.1:n.1111-100A>C
NM_002055.5:c.907-100A>C MANE Select	NP_002046.1:n.907-100A>C
NM_001131019.3:c.907-100A>C	NP_001124491.1:n.907-100A>C
NM_001242376.2:c.907-100A>C	NP_001229305.1:n.907-100A>C
NM_001242376.3:c.907-100A>C	NP_001229305.1:n.907-100A>C
NM_001363846.2:c.907-100A>C	NP_001350775.1:n.907-100A>C