Canonical Allele Identifier: CA399845540

Gene: GFAP

Linked Data

• MyVariant Identifiers: chr17:g.42990660C>G (hg19) ; chr17:g.44913292C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913292C>G , CM000679.2:g.44913292C>G	GRCh38
NC_000017.10:g.42990660C>G , CM000679.1:g.42990660C>G	GRCh37
NC_000017.9:g.40346186C>G	NCBI36
NG_008401.1:g.7255G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.757G>C	ENSP00000253408.5:p.Ala253Pro
ENST00000435360.8:c.757G>C	ENSP00000403962.1:p.Ala253Pro
ENST00000253408.10:c.757G>C	ENSP00000253408.5:p.Ala253Pro
ENST00000435360.7:c.757G>C	ENSP00000403962.1:p.Ala253Pro
ENST00000586127.6:n.1286G>C
ENST00000586793.6:c.757G>C	ENSP00000468500.2:p.Ala253Pro
ENST00000587997.6:n.233G>C
ENST00000588735.3:c.757G>C MANE Select	ENSP00000466598.2:p.Ala253Pro
ENST00000591327.2:n.1911G>C
ENST00000592320.6:c.618+436G>C	ENSP00000465320.1:n.618+436G>C
ENST00000638281.1:c.757G>C	ENSP00000491088.1:p.Ala253Pro
ENST00000638618.1:c.412G>C	ENSP00000492832.1:p.Ala138Pro
ENST00000639277.1:c.757G>C	ENSP00000492432.1:p.Ala253Pro
ENST00000640552.1:n.771G>C
ENST00000253408.9:c.757G>C	ENSP00000253408.4:p.Ala253Pro
ENST00000376990.8:c.*156G>C	ENSP00000366189.4:n.*156G>C
ENST00000435360.6:c.757G>C	ENSP00000403962.1:p.Ala253Pro
ENST00000586793.5:c.757G>C	ENSP00000468500.1:p.Ala253Pro
ENST00000587997.5:c.233G>C
ENST00000588316.1:c.661G>C	ENSP00000465629.1:p.Ala221Pro
ENST00000588735.1:c.82+2113G>C	ENSP00000466598.1:n.82+2113G>C
ENST00000588957.5:c.25G>C	ENSP00000465565.1:p.Ala9Pro
ENST00000590922.1:n.407G>C
ENST00000592320.5:c.618+436G>C	ENSP00000465320.1:n.618+436G>C
NM_001131019.2:c.757G>C	NP_001124491.1:p.Ala253Pro
NM_001242376.1:c.757G>C	NP_001229305.1:p.Ala253Pro
NM_002055.4:c.757G>C	NP_002046.1:p.Ala253Pro
NM_001363846.1:c.757G>C	NP_001350775.1:p.Ala253Pro
XM_024450690.1:c.961G>C	XP_024306458.1:p.Ala321Pro
XM_024450691.1:c.961G>C	XP_024306459.1:p.Ala321Pro
XM_024450692.1:c.961G>C	XP_024306460.1:p.Ala321Pro
XM_024450693.1:c.961G>C	XP_024306461.1:p.Ala321Pro
NM_002055.5:c.757G>C MANE Select	NP_002046.1:p.Ala253Pro
NM_001131019.3:c.757G>C	NP_001124491.1:p.Ala253Pro
NM_001242376.2:c.757G>C	NP_001229305.1:p.Ala253Pro
NM_001242376.3:c.757G>C	NP_001229305.1:p.Ala253Pro
NM_001363846.2:c.757G>C	NP_001350775.1:p.Ala253Pro