Canonical Allele Identifier: CA399838798

Gene: GFAP

Linked Data

• dbSNP Id: rs121909717
• gnomAD v3: 17-44908075-G-C
• gnomAD v4: 17-44908075-G-C
• MyVariant Identifiers: chr17:g.42985443G>C (hg19) ; chr17:g.44908075G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44908075G>C , CM000679.2:g.44908075G>C	GRCh38
NC_000017.10:g.42985443G>C , CM000679.1:g.42985443G>C	GRCh37
NC_000017.9:g.40340969G>C	NCBI36
NG_008401.1:g.12472C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.1366C>G	ENSP00000253408.5:p.Arg456Gly
ENST00000253408.10:c.1366C>G	ENSP00000253408.5:p.Arg456Gly
ENST00000441312.2:n.99C>G
ENST00000585543.6:n.399C>G
ENST00000586125.2:c.181C>G	ENSP00000467397.2:p.Arg61Gly
ENST00000588735.3:c.1246C>G MANE Select	ENSP00000466598.2:p.Arg416Gly
ENST00000589701.2:n.2153C>G
ENST00000591880.2:c.345C>G
ENST00000592065.2:n.614C>G
ENST00000638304.1:c.165C>G
ENST00000638400.1:c.81C>G
ENST00000638488.1:n.710C>G
ENST00000638618.1:c.901C>G	ENSP00000492832.1:p.Arg301Gly
ENST00000638921.1:n.173C>G
ENST00000639042.1:c.218C>G
ENST00000639243.1:c.2C>G
ENST00000639277.1:c.1246C>G	ENSP00000492432.1:p.Arg416Gly
ENST00000639369.1:c.96C>G
ENST00000640545.1:c.52C>G	ENSP00000491735.1:p.Arg18Gly
ENST00000640859.1:c.60C>G
ENST00000253408.9:c.1246C>G	ENSP00000253408.4:p.Arg416Gly
ENST00000585543.5:n.399C>G
ENST00000588735.1:c.124C>G	ENSP00000466598.1:p.Arg42Gly
ENST00000589701.1:n.148C>G
ENST00000591880.1:c.112C>G	ENSP00000467530.1:p.Arg38Gly
ENST00000592065.1:n.40C>G
ENST00000592706.5:n.118C>G
NM_002055.4:c.1246C>G	NP_002046.1:p.Arg416Gly
NM_001363846.1:c.1366C>G	NP_001350775.1:p.Arg456Gly
XM_024450690.1:c.1570C>G	XP_024306458.1:p.Arg524Gly
XM_024450692.1:c.1450C>G	XP_024306460.1:p.Arg484Gly
NM_002055.5:c.1246C>G MANE Select	NP_002046.1:p.Arg416Gly
NM_001363846.2:c.1366C>G	NP_001350775.1:p.Arg456Gly