Canonical Allele Identifier: CA399844454

Gene: GFAP

Linked Data

• ClinVar Variation Id: 1302334
• ClinVar RCV Id: RCV001754223
• dbSNP Id: rs2145633326
• gnomAD v4: 17-44911446-A-G
• MyVariant Identifiers: chr17:g.42988814A>G (hg19) ; chr17:g.44911446A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44911446A>G , CM000679.2:g.44911446A>G	GRCh38
NC_000017.10:g.42988814A>G , CM000679.1:g.42988814A>G	GRCh37
NC_000017.9:g.40344340A>G	NCBI36
NG_008401.1:g.9101T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.917T>C	ENSP00000253408.5:p.Leu306Pro
ENST00000435360.8:c.917T>C	ENSP00000403962.1:p.Leu306Pro
ENST00000253408.10:c.917T>C	ENSP00000253408.5:p.Leu306Pro
ENST00000435360.7:c.917T>C	ENSP00000403962.1:p.Leu306Pro
ENST00000585543.6:n.70T>C
ENST00000586127.6:n.1446T>C
ENST00000586793.6:c.907-125T>C	ENSP00000468500.2:n.907-125T>C
ENST00000587997.6:n.393T>C
ENST00000588735.3:c.917T>C MANE Select	ENSP00000466598.2:p.Leu306Pro
ENST00000591327.2:n.2071T>C
ENST00000592320.6:c.619-125T>C	ENSP00000465320.1:n.619-125T>C
ENST00000638281.1:c.917T>C	ENSP00000491088.1:p.Leu306Pro
ENST00000638618.1:c.572T>C	ENSP00000492832.1:p.Leu191Pro
ENST00000639277.1:c.917T>C	ENSP00000492432.1:p.Leu306Pro
ENST00000640552.1:n.931T>C
ENST00000253408.9:c.917T>C	ENSP00000253408.4:p.Leu306Pro
ENST00000376990.8:c.*316T>C	ENSP00000366189.4:n.*316T>C
ENST00000435360.6:c.917T>C	ENSP00000403962.1:p.Leu306Pro
ENST00000585543.5:n.70T>C
ENST00000586793.5:c.917T>C	ENSP00000468500.1:p.Leu306Pro
ENST00000587997.5:c.393T>C
ENST00000588640.5:n.297T>C
ENST00000588735.1:c.83-3330T>C	ENSP00000466598.1:n.83-3330T>C
ENST00000591719.5:n.551T>C
ENST00000592320.5:c.619-125T>C	ENSP00000465320.1:n.619-125T>C
NM_001131019.2:c.917T>C	NP_001124491.1:p.Leu306Pro
NM_001242376.1:c.917T>C	NP_001229305.1:p.Leu306Pro
NM_002055.4:c.917T>C	NP_002046.1:p.Leu306Pro
NM_001363846.1:c.917T>C	NP_001350775.1:p.Leu306Pro
XM_024450690.1:c.1121T>C	XP_024306458.1:p.Leu374Pro
XM_024450691.1:c.1121T>C	XP_024306459.1:p.Leu374Pro
XM_024450692.1:c.1121T>C	XP_024306460.1:p.Leu374Pro
XM_024450693.1:c.1121T>C	XP_024306461.1:p.Leu374Pro
NM_002055.5:c.917T>C MANE Select	NP_002046.1:p.Leu306Pro
NM_001131019.3:c.917T>C	NP_001124491.1:p.Leu306Pro
NM_001242376.2:c.917T>C	NP_001229305.1:p.Leu306Pro
NM_001242376.3:c.917T>C	NP_001229305.1:p.Leu306Pro
NM_001363846.2:c.917T>C	NP_001350775.1:p.Leu306Pro