Canonical Allele Identifier: CA626157216

Gene: GFAP

Linked Data

• dbSNP Id: rs1179312718
• gnomAD v2: 17-42988920-G-C
• gnomAD v3: 17-44911552-G-C
• gnomAD v4: 17-44911552-G-C
• MyVariant Identifiers: chr17:g.42988920G>C (hg19) ; chr17:g.44911552G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44911552G>C , CM000679.2:g.44911552G>C	GRCh38
NC_000017.10:g.42988920G>C , CM000679.1:g.42988920G>C	GRCh37
NC_000017.9:g.40344446G>C	NCBI36
NG_008401.1:g.8995C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.907-96C>G	ENSP00000253408.5:n.907-96C>G
ENST00000435360.8:c.907-96C>G	ENSP00000403962.1:n.907-96C>G
ENST00000253408.10:c.907-96C>G	ENSP00000253408.5:n.907-96C>G
ENST00000435360.7:c.907-96C>G	ENSP00000403962.1:n.907-96C>G
ENST00000586127.6:n.1436-96C>G
ENST00000586793.6:c.906+120C>G	ENSP00000468500.2:n.906+120C>G
ENST00000587997.6:n.383-96C>G
ENST00000588735.3:c.907-96C>G MANE Select	ENSP00000466598.2:n.907-96C>G
ENST00000591327.2:n.2061-96C>G
ENST00000592320.6:c.619-231C>G	ENSP00000465320.1:n.619-231C>G
ENST00000638281.1:c.907-96C>G	ENSP00000491088.1:n.907-96C>G
ENST00000638618.1:c.562-96C>G	ENSP00000492832.1:n.562-96C>G
ENST00000639277.1:c.907-96C>G	ENSP00000492432.1:n.907-96C>G
ENST00000640552.1:n.921-96C>G
ENST00000253408.9:c.907-96C>G	ENSP00000253408.4:n.907-96C>G
ENST00000376990.8:c.*306-96C>G	ENSP00000366189.4:n.*306-96C>G
ENST00000435360.6:c.907-96C>G	ENSP00000403962.1:n.907-96C>G
ENST00000586793.5:c.907-96C>G	ENSP00000468500.1:n.907-96C>G
ENST00000587997.5:c.383-96C>G
ENST00000588640.5:n.287-96C>G
ENST00000588735.1:c.83-3436C>G	ENSP00000466598.1:n.83-3436C>G
ENST00000591719.5:n.541-96C>G
ENST00000592320.5:c.619-231C>G	ENSP00000465320.1:n.619-231C>G
NM_001131019.2:c.907-96C>G	NP_001124491.1:n.907-96C>G
NM_001242376.1:c.907-96C>G	NP_001229305.1:n.907-96C>G
NM_002055.4:c.907-96C>G	NP_002046.1:n.907-96C>G
NM_001363846.1:c.907-96C>G	NP_001350775.1:n.907-96C>G
XM_024450690.1:c.1111-96C>G	XP_024306458.1:n.1111-96C>G
XM_024450691.1:c.1111-96C>G	XP_024306459.1:n.1111-96C>G
XM_024450692.1:c.1111-96C>G	XP_024306460.1:n.1111-96C>G
XM_024450693.1:c.1111-96C>G	XP_024306461.1:n.1111-96C>G
NM_002055.5:c.907-96C>G MANE Select	NP_002046.1:n.907-96C>G
NM_001131019.3:c.907-96C>G	NP_001124491.1:n.907-96C>G
NM_001242376.2:c.907-96C>G	NP_001229305.1:n.907-96C>G
NM_001242376.3:c.907-96C>G	NP_001229305.1:n.907-96C>G
NM_001363846.2:c.907-96C>G	NP_001350775.1:n.907-96C>G