Canonical Allele Identifier: CA399844462

Gene: GFAP

Linked Data

• dbSNP Id: rs1375005534
• gnomAD v4: 17-44911449-G-C
• MyVariant Identifiers: chr17:g.42988817G>C (hg19) ; chr17:g.44911449G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44911449G>C , CM000679.2:g.44911449G>C	GRCh38
NC_000017.10:g.42988817G>C , CM000679.1:g.42988817G>C	GRCh37
NC_000017.9:g.40344343G>C	NCBI36
NG_008401.1:g.9098C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.914C>G	ENSP00000253408.5:p.Ser305Cys
ENST00000435360.8:c.914C>G	ENSP00000403962.1:p.Ser305Cys
ENST00000253408.10:c.914C>G	ENSP00000253408.5:p.Ser305Cys
ENST00000435360.7:c.914C>G	ENSP00000403962.1:p.Ser305Cys
ENST00000585543.6:n.67C>G
ENST00000586127.6:n.1443C>G
ENST00000586793.6:c.907-128C>G	ENSP00000468500.2:n.907-128C>G
ENST00000587997.6:n.390C>G
ENST00000588735.3:c.914C>G MANE Select	ENSP00000466598.2:p.Ser305Cys
ENST00000591327.2:n.2068C>G
ENST00000592320.6:c.619-128C>G	ENSP00000465320.1:n.619-128C>G
ENST00000638281.1:c.914C>G	ENSP00000491088.1:p.Ser305Cys
ENST00000638618.1:c.569C>G	ENSP00000492832.1:p.Ser190Cys
ENST00000639277.1:c.914C>G	ENSP00000492432.1:p.Ser305Cys
ENST00000640552.1:n.928C>G
ENST00000253408.9:c.914C>G	ENSP00000253408.4:p.Ser305Cys
ENST00000376990.8:c.*313C>G	ENSP00000366189.4:n.*313C>G
ENST00000435360.6:c.914C>G	ENSP00000403962.1:p.Ser305Cys
ENST00000585543.5:n.67C>G
ENST00000586793.5:c.914C>G	ENSP00000468500.1:p.Ser305Cys
ENST00000587997.5:c.390C>G
ENST00000588640.5:n.294C>G
ENST00000588735.1:c.83-3333C>G	ENSP00000466598.1:n.83-3333C>G
ENST00000591719.5:n.548C>G
ENST00000592320.5:c.619-128C>G	ENSP00000465320.1:n.619-128C>G
NM_001131019.2:c.914C>G	NP_001124491.1:p.Ser305Cys
NM_001242376.1:c.914C>G	NP_001229305.1:p.Ser305Cys
NM_002055.4:c.914C>G	NP_002046.1:p.Ser305Cys
NM_001363846.1:c.914C>G	NP_001350775.1:p.Ser305Cys
XM_024450690.1:c.1118C>G	XP_024306458.1:p.Ser373Cys
XM_024450691.1:c.1118C>G	XP_024306459.1:p.Ser373Cys
XM_024450692.1:c.1118C>G	XP_024306460.1:p.Ser373Cys
XM_024450693.1:c.1118C>G	XP_024306461.1:p.Ser373Cys
NM_002055.5:c.914C>G MANE Select	NP_002046.1:p.Ser305Cys
NM_001131019.3:c.914C>G	NP_001124491.1:p.Ser305Cys
NM_001242376.2:c.914C>G	NP_001229305.1:p.Ser305Cys
NM_001242376.3:c.914C>G	NP_001229305.1:p.Ser305Cys
NM_001363846.2:c.914C>G	NP_001350775.1:p.Ser305Cys