Canonical Allele Identifier: CA399838850

Gene: GFAP

Linked Data

• ClinVar Variation Id: 2175616
• ClinVar RCV Id: RCV002579362
• dbSNP Id: rs1387041551
• gnomAD v2: 17-42985452-C-T
• gnomAD v3: 17-44908084-C-T
• gnomAD v4: 17-44908084-C-T
• MyVariant Identifiers: chr17:g.42985452C>T (hg19) ; chr17:g.44908084C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44908084C>T , CM000679.2:g.44908084C>T	GRCh38
NC_000017.10:g.42985452C>T , CM000679.1:g.42985452C>T	GRCh37
NC_000017.9:g.40340978C>T	NCBI36
NG_008401.1:g.12463G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1357G>A	ENSP00000253408.5:p.Val453Met
ENST00000253408.10:c.1357G>A	ENSP00000253408.5:p.Val453Met
ENST00000441312.2:n.90G>A
ENST00000585543.6:n.390G>A
ENST00000586125.2:c.172G>A	ENSP00000467397.2:p.Val58Met
ENST00000588735.3:c.1237G>A MANE Select	ENSP00000466598.2:p.Val413Met
ENST00000589701.2:n.2144G>A
ENST00000591880.2:c.336G>A
ENST00000592065.2:n.605G>A
ENST00000638304.1:c.156G>A
ENST00000638400.1:c.72G>A
ENST00000638488.1:n.701G>A
ENST00000638618.1:c.892G>A	ENSP00000492832.1:p.Val298Met
ENST00000638921.1:n.164G>A
ENST00000639042.1:c.209G>A
ENST00000639277.1:c.1237G>A	ENSP00000492432.1:p.Val413Met
ENST00000639369.1:c.87G>A
ENST00000640545.1:c.43G>A	ENSP00000491735.1:p.Val15Met
ENST00000640859.1:c.51G>A
ENST00000253408.9:c.1237G>A	ENSP00000253408.4:p.Val413Met
ENST00000585543.5:n.390G>A
ENST00000588735.1:c.115G>A	ENSP00000466598.1:p.Val39Met
ENST00000589701.1:n.139G>A
ENST00000591880.1:c.103G>A	ENSP00000467530.1:p.Val35Met
ENST00000592065.1:n.31G>A
ENST00000592706.5:n.109G>A
NM_002055.4:c.1237G>A	NP_002046.1:p.Val413Met
NM_001363846.1:c.1357G>A	NP_001350775.1:p.Val453Met
XM_024450690.1:c.1561G>A	XP_024306458.1:p.Val521Met
XM_024450692.1:c.1441G>A	XP_024306460.1:p.Val481Met
NM_002055.5:c.1237G>A MANE Select	NP_002046.1:p.Val413Met
NM_001363846.2:c.1357G>A	NP_001350775.1:p.Val453Met