Canonical Allele Identifier: CA8609124

Gene: GFAP

Linked Data

• ClinVar Variation Id: 2153444
• ClinVar RCV Id: RCV003077619
• dbSNP Id: rs146698039
• ExAC: 17:42992812 C / G
• gnomAD v2: 17-42992812-C-G
• gnomAD v4: 17-44915444-C-G
• MyVariant Identifiers: chr17:g.42992812C>G (hg19) ; chr17:g.44915444C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44915444C>G , CM000679.2:g.44915444C>G	GRCh38
NC_000017.10:g.42992812C>G , CM000679.1:g.42992812C>G	GRCh37
NC_000017.9:g.40348338C>G	NCBI36
NG_008401.1:g.5103G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.43G>C	ENSP00000253408.5:p.Val15Leu
ENST00000435360.8:c.43G>C	ENSP00000403962.1:p.Val15Leu
ENST00000253408.10:c.43G>C	ENSP00000253408.5:p.Val15Leu
ENST00000435360.7:c.43G>C	ENSP00000403962.1:p.Val15Leu
ENST00000586793.6:c.43G>C	ENSP00000468500.2:p.Val15Leu
ENST00000588735.3:c.43G>C MANE Select	ENSP00000466598.2:p.Val15Leu
ENST00000591327.2:n.56G>C
ENST00000592320.6:c.43G>C	ENSP00000465320.1:p.Val15Leu
ENST00000638281.1:c.43G>C	ENSP00000491088.1:p.Val15Leu
ENST00000639277.1:c.43G>C	ENSP00000492432.1:p.Val15Leu
ENST00000640552.1:n.57G>C
ENST00000253408.9:c.43G>C	ENSP00000253408.4:p.Val15Leu
ENST00000376990.8:c.43G>C	ENSP00000366189.4:p.Val15Leu
ENST00000435360.6:c.43G>C	ENSP00000403962.1:p.Val15Leu
ENST00000585728.5:c.43G>C	ENSP00000465208.1:p.Val15Leu
ENST00000586793.5:c.43G>C	ENSP00000468500.1:p.Val15Leu
ENST00000588037.1:c.43G>C	ENSP00000466163.1:p.Val15Leu
ENST00000588316.1:c.43G>C	ENSP00000465629.1:p.Val15Leu
ENST00000588735.1:c.43G>C	ENSP00000466598.1:p.Val15Leu
ENST00000588957.5:c.-272+373G>C	ENSP00000465565.1:n.-272+373G>C
ENST00000591327.1:n.57G>C
ENST00000592320.5:c.43G>C	ENSP00000465320.1:p.Val15Leu
NM_001131019.2:c.43G>C	NP_001124491.1:p.Val15Leu
NM_001242376.1:c.43G>C	NP_001229305.1:p.Val15Leu
NM_002055.4:c.43G>C	NP_002046.1:p.Val15Leu
NM_001363846.1:c.43G>C	NP_001350775.1:p.Val15Leu
XM_024450690.1:c.43G>C	XP_024306458.1:p.Val15Leu
XM_024450691.1:c.43G>C	XP_024306459.1:p.Val15Leu
XM_024450692.1:c.43G>C	XP_024306460.1:p.Val15Leu
XM_024450693.1:c.43G>C	XP_024306461.1:p.Val15Leu
NM_002055.5:c.43G>C MANE Select	NP_002046.1:p.Val15Leu
NM_001131019.3:c.43G>C	NP_001124491.1:p.Val15Leu
NM_001242376.2:c.43G>C	NP_001229305.1:p.Val15Leu
NM_001242376.3:c.43G>C	NP_001229305.1:p.Val15Leu
NM_001363846.2:c.43G>C	NP_001350775.1:p.Val15Leu