Canonical Allele Identifier: CA347231

Gene: GFAP

Linked Data

• ClinVar Variation Id: 190362
• ClinVar RCV Id: RCV000192180 ; RCV000479686
• dbSNP Id: rs797044590
• gnomAD v3: 17-44910632-G-C
• gnomAD v4: 17-44910632-G-C
• MyVariant Identifiers: chr17:g.42988000G>C (hg19) ; chr17:g.44910632G>C (hg38)
• PubMed: PMID:20301351 ; PMID:24306001

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44910632G>C , CM000679.2:g.44910632G>C	GRCh38
NC_000017.10:g.42988000G>C , CM000679.1:g.42988000G>C	GRCh37
NC_000017.9:g.40343526G>C	NCBI36
NG_008401.1:g.9915C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1154C>G	ENSP00000253408.5:p.Ser385Cys
ENST00000435360.8:c.1154C>G	ENSP00000403962.1:p.Ser385Cys
ENST00000253408.10:c.1154C>G	ENSP00000253408.5:p.Ser385Cys
ENST00000435360.7:c.1154C>G	ENSP00000403962.1:p.Ser385Cys
ENST00000585543.6:n.307C>G
ENST00000586125.2:c.89C>G	ENSP00000467397.2:p.Ser30Cys
ENST00000588735.3:c.1154C>G MANE Select	ENSP00000466598.2:p.Ser385Cys
ENST00000591327.2:n.2308C>G
ENST00000591880.2:c.84C>G
ENST00000592320.6:c.731C>G	ENSP00000465320.1:p.Ser244Cys
ENST00000638281.1:c.1154C>G	ENSP00000491088.1:p.Ser385Cys
ENST00000638304.1:c.73C>G
ENST00000638488.1:n.95C>G
ENST00000638618.1:c.809C>G	ENSP00000492832.1:p.Ser270Cys
ENST00000639042.1:c.91C>G
ENST00000639277.1:c.1154C>G	ENSP00000492432.1:p.Ser385Cys
ENST00000639369.1:c.4C>G
ENST00000639921.1:c.327C>G
ENST00000640552.1:n.1168C>G
ENST00000253408.9:c.1154C>G	ENSP00000253408.4:p.Ser385Cys
ENST00000435360.6:c.1154C>G	ENSP00000403962.1:p.Ser385Cys
ENST00000585543.5:n.307C>G
ENST00000586125.1:c.5C>G	ENSP00000467397.1:p.Ser2Cys
ENST00000586793.5:c.1154C>G	ENSP00000468500.1:p.Ser385Cys
ENST00000588640.5:n.534C>G
ENST00000588735.1:c.83-2516C>G	ENSP00000466598.1:n.83-2516C>G
ENST00000591880.1:c.20C>G	ENSP00000467530.1:p.Ser7Cys
ENST00000592320.5:c.731C>G	ENSP00000465320.1:p.Ser244Cys
NM_001131019.2:c.1154C>G	NP_001124491.1:p.Ser385Cys
NM_001242376.1:c.1154C>G	NP_001229305.1:p.Ser385Cys
NM_002055.4:c.1154C>G	NP_002046.1:p.Ser385Cys
NM_001363846.1:c.1154C>G	NP_001350775.1:p.Ser385Cys
XM_024450690.1:c.1358C>G	XP_024306458.1:p.Ser453Cys
XM_024450691.1:c.1358C>G	XP_024306459.1:p.Ser453Cys
XM_024450692.1:c.1358C>G	XP_024306460.1:p.Ser453Cys
XM_024450693.1:c.1358C>G	XP_024306461.1:p.Ser453Cys
NM_002055.5:c.1154C>G MANE Select	NP_002046.1:p.Ser385Cys
NM_001131019.3:c.1154C>G	NP_001124491.1:p.Ser385Cys
NM_001242376.2:c.1154C>G	NP_001229305.1:p.Ser385Cys
NM_001242376.3:c.1154C>G	NP_001229305.1:p.Ser385Cys
NM_001363846.2:c.1154C>G	NP_001350775.1:p.Ser385Cys