Canonical Allele Identifier: CA14379576

Gene: GFAP

Linked Data

• ClinVar Variation Id: 1179285
• ClinVar RCV Id: RCV001536237
• dbSNP Id: rs3785891
• gnomAD v2: 17-42990340-C-T
• gnomAD v3: 17-44912972-C-T
• gnomAD v4: 17-44912972-C-T
• MyVariant Identifiers: chr17:g.42990340C>T (hg19) ; chr17:g.44912972C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44912972C>T , CM000679.2:g.44912972C>T	GRCh38
NC_000017.10:g.42990340C>T , CM000679.1:g.42990340C>T	GRCh37
NC_000017.9:g.40345866C>T	NCBI36
NG_008401.1:g.7575G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.780+297G>A	ENSP00000253408.5:n.780+297G>A
ENST00000435360.8:c.780+297G>A	ENSP00000403962.1:n.780+297G>A
ENST00000253408.10:c.780+297G>A	ENSP00000253408.5:n.780+297G>A
ENST00000435360.7:c.780+297G>A	ENSP00000403962.1:n.780+297G>A
ENST00000586127.6:n.1309+297G>A
ENST00000586793.6:c.780+297G>A	ENSP00000468500.2:n.780+297G>A
ENST00000587997.6:n.256+297G>A
ENST00000588735.3:c.780+297G>A MANE Select	ENSP00000466598.2:n.780+297G>A
ENST00000591327.2:n.1934+297G>A
ENST00000592320.6:c.618+756G>A	ENSP00000465320.1:n.618+756G>A
ENST00000638281.1:c.780+297G>A	ENSP00000491088.1:n.780+297G>A
ENST00000638618.1:c.435+297G>A	ENSP00000492832.1:n.435+297G>A
ENST00000639277.1:c.780+297G>A	ENSP00000492432.1:n.780+297G>A
ENST00000640552.1:n.794+297G>A
ENST00000253408.9:c.780+297G>A	ENSP00000253408.4:n.780+297G>A
ENST00000376990.8:c.*179+297G>A	ENSP00000366189.4:n.*179+297G>A
ENST00000435360.6:c.780+297G>A	ENSP00000403962.1:n.780+297G>A
ENST00000586793.5:c.780+297G>A	ENSP00000468500.1:n.780+297G>A
ENST00000587997.5:c.256+297G>A
ENST00000588316.1:c.684+297G>A	ENSP00000465629.1:n.684+297G>A
ENST00000588735.1:c.82+2433G>A	ENSP00000466598.1:n.82+2433G>A
ENST00000588957.5:c.48+297G>A	ENSP00000465565.1:n.48+297G>A
ENST00000590922.1:n.430+297G>A
ENST00000592320.5:c.618+756G>A	ENSP00000465320.1:n.618+756G>A
NM_001131019.2:c.780+297G>A	NP_001124491.1:n.780+297G>A
NM_001242376.1:c.780+297G>A	NP_001229305.1:n.780+297G>A
NM_002055.4:c.780+297G>A	NP_002046.1:n.780+297G>A
NM_001363846.1:c.780+297G>A	NP_001350775.1:n.780+297G>A
XM_024450690.1:c.984+297G>A	XP_024306458.1:n.984+297G>A
XM_024450691.1:c.984+297G>A	XP_024306459.1:n.984+297G>A
XM_024450692.1:c.984+297G>A	XP_024306460.1:n.984+297G>A
XM_024450693.1:c.984+297G>A	XP_024306461.1:n.984+297G>A
NM_002055.5:c.780+297G>A MANE Select	NP_002046.1:n.780+297G>A
NM_001131019.3:c.780+297G>A	NP_001124491.1:n.780+297G>A
NM_001242376.2:c.780+297G>A	NP_001229305.1:n.780+297G>A
NM_001242376.3:c.780+297G>A	NP_001229305.1:n.780+297G>A
NM_001363846.2:c.780+297G>A	NP_001350775.1:n.780+297G>A