Canonical Allele Identifier: CA399838949

Gene: GFAP

Linked Data

• ClinVar Variation Id: 1305148
• ClinVar RCV Id: RCV001773858
• dbSNP Id: rs1555573462
• gnomAD v4: 17-44908101-T-C
• MyVariant Identifiers: chr17:g.42985469T>C (hg19) ; chr17:g.44908101T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44908101T>C , CM000679.2:g.44908101T>C	GRCh38
NC_000017.10:g.42985469T>C , CM000679.1:g.42985469T>C	GRCh37
NC_000017.9:g.40340995T>C	NCBI36
NG_008401.1:g.12446A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1340A>G	ENSP00000253408.5:p.Asn447Ser
ENST00000253408.10:c.1340A>G	ENSP00000253408.5:p.Asn447Ser
ENST00000441312.2:n.73A>G
ENST00000585543.6:n.373A>G
ENST00000586125.2:c.155A>G	ENSP00000467397.2:p.Asn52Ser
ENST00000588735.3:c.1220A>G MANE Select	ENSP00000466598.2:p.Asn407Ser
ENST00000589701.2:n.2127A>G
ENST00000591880.2:c.319A>G
ENST00000592065.2:n.588A>G
ENST00000638304.1:c.139A>G
ENST00000638400.1:c.55A>G
ENST00000638488.1:n.684A>G
ENST00000638618.1:c.875A>G	ENSP00000492832.1:p.Asn292Ser
ENST00000638921.1:n.147A>G
ENST00000639042.1:c.192A>G
ENST00000639277.1:c.1220A>G	ENSP00000492432.1:p.Asn407Ser
ENST00000639369.1:c.70A>G
ENST00000640545.1:c.26A>G	ENSP00000491735.1:p.Asn9Ser
ENST00000640859.1:c.34A>G
ENST00000253408.9:c.1220A>G	ENSP00000253408.4:p.Asn407Ser
ENST00000585543.5:n.373A>G
ENST00000586125.1:c.191A>G	ENSP00000467397.1:p.Asn64Ser
ENST00000588735.1:c.98A>G	ENSP00000466598.1:p.Asn33Ser
ENST00000589701.1:n.122A>G
ENST00000591880.1:c.86A>G	ENSP00000467530.1:p.Asn29Ser
ENST00000592065.1:n.14A>G
ENST00000592706.5:n.92A>G
NM_002055.4:c.1220A>G	NP_002046.1:p.Asn407Ser
NM_001363846.1:c.1340A>G	NP_001350775.1:p.Asn447Ser
XM_024450690.1:c.1544A>G	XP_024306458.1:p.Asn515Ser
XM_024450692.1:c.1424A>G	XP_024306460.1:p.Asn475Ser
NM_002055.5:c.1220A>G MANE Select	NP_002046.1:p.Asn407Ser
NM_001363846.2:c.1340A>G	NP_001350775.1:p.Asn447Ser