Canonical Allele Identifier: CA8608873

Gene: GFAP

Linked Data

• ClinVar Variation Id: 323614
• ClinVar RCV Id: RCV000675412 ; RCV001288191
• dbSNP Id: rs147404772
• ExAC: 17:42990679 C / T
• gnomAD v2: 17-42990679-C-T
• gnomAD v3: 17-44913311-C-T
• gnomAD v4: 17-44913311-C-T
• MyVariant Identifiers: chr17:g.42990679C>T (hg19) ; chr17:g.44913311C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913311C>T , CM000679.2:g.44913311C>T	GRCh38
NC_000017.10:g.42990679C>T , CM000679.1:g.42990679C>T	GRCh37
NC_000017.9:g.40346205C>T	NCBI36
NG_008401.1:g.7236G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.738G>A	ENSP00000253408.5:p.Ala246=
ENST00000435360.8:c.738G>A	ENSP00000403962.1:p.Ala246=
ENST00000253408.10:c.738G>A	ENSP00000253408.5:p.Ala246=
ENST00000435360.7:c.738G>A	ENSP00000403962.1:p.Ala246=
ENST00000586127.6:n.1267G>A
ENST00000586793.6:c.738G>A	ENSP00000468500.2:p.Ala246=
ENST00000587997.6:n.214G>A
ENST00000588735.3:c.738G>A MANE Select	ENSP00000466598.2:p.Ala246=
ENST00000591327.2:n.1892G>A
ENST00000592320.6:c.618+417G>A	ENSP00000465320.1:n.618+417G>A
ENST00000638281.1:c.738G>A	ENSP00000491088.1:p.Ala246=
ENST00000638618.1:c.393G>A	ENSP00000492832.1:p.Ala131=
ENST00000639277.1:c.738G>A	ENSP00000492432.1:p.Ala246=
ENST00000640552.1:n.752G>A
ENST00000253408.9:c.738G>A	ENSP00000253408.4:p.Ala246=
ENST00000376990.8:c.*137G>A	ENSP00000366189.4:n.*137G>A
ENST00000435360.6:c.738G>A	ENSP00000403962.1:p.Ala246=
ENST00000586793.5:c.738G>A	ENSP00000468500.1:p.Ala246=
ENST00000587997.5:c.214G>A
ENST00000588316.1:c.642G>A	ENSP00000465629.1:p.Ala214=
ENST00000588735.1:c.82+2094G>A	ENSP00000466598.1:n.82+2094G>A
ENST00000588957.5:c.6G>A	ENSP00000465565.1:p.Ala2=
ENST00000590922.1:n.388G>A
ENST00000592320.5:c.618+417G>A	ENSP00000465320.1:n.618+417G>A
NM_001131019.2:c.738G>A	NP_001124491.1:p.Ala246=
NM_001242376.1:c.738G>A	NP_001229305.1:p.Ala246=
NM_002055.4:c.738G>A	NP_002046.1:p.Ala246=
NM_001363846.1:c.738G>A	NP_001350775.1:p.Ala246=
XM_024450690.1:c.942G>A	XP_024306458.1:p.Ala314=
XM_024450691.1:c.942G>A	XP_024306459.1:p.Ala314=
XM_024450692.1:c.942G>A	XP_024306460.1:p.Ala314=
XM_024450693.1:c.942G>A	XP_024306461.1:p.Ala314=
NM_002055.5:c.738G>A MANE Select	NP_002046.1:p.Ala246=
NM_001131019.3:c.738G>A	NP_001124491.1:p.Ala246=
NM_001242376.2:c.738G>A	NP_001229305.1:p.Ala246=
NM_001242376.3:c.738G>A	NP_001229305.1:p.Ala246=
NM_001363846.2:c.738G>A	NP_001350775.1:p.Ala246=