Canonical Allele Identifier: CA399838792

Gene: GFAP

Linked Data

• gnomAD v4: 17-44908074-C-G
• MyVariant Identifiers: chr17:g.42985442C>G (hg19) ; chr17:g.44908074C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44908074C>G , CM000679.2:g.44908074C>G	GRCh38
NC_000017.10:g.42985442C>G , CM000679.1:g.42985442C>G	GRCh37
NC_000017.9:g.40340968C>G	NCBI36
NG_008401.1:g.12473G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1367G>C	ENSP00000253408.5:p.Arg456Pro
ENST00000253408.10:c.1367G>C	ENSP00000253408.5:p.Arg456Pro
ENST00000441312.2:n.100G>C
ENST00000585543.6:n.400G>C
ENST00000586125.2:c.182G>C	ENSP00000467397.2:p.Arg61Pro
ENST00000588735.3:c.1247G>C MANE Select	ENSP00000466598.2:p.Arg416Pro
ENST00000589701.2:n.2154G>C
ENST00000591880.2:c.346G>C
ENST00000592065.2:n.615G>C
ENST00000638304.1:c.166G>C
ENST00000638400.1:c.82G>C
ENST00000638488.1:n.711G>C
ENST00000638618.1:c.902G>C	ENSP00000492832.1:p.Arg301Pro
ENST00000638921.1:n.174G>C
ENST00000639042.1:c.219G>C
ENST00000639243.1:c.3G>C
ENST00000639277.1:c.1247G>C	ENSP00000492432.1:p.Arg416Pro
ENST00000639369.1:c.97G>C
ENST00000640545.1:c.53G>C	ENSP00000491735.1:p.Arg18Pro
ENST00000640859.1:c.61G>C
ENST00000253408.9:c.1247G>C	ENSP00000253408.4:p.Arg416Pro
ENST00000585543.5:n.400G>C
ENST00000588735.1:c.125G>C	ENSP00000466598.1:p.Arg42Pro
ENST00000589701.1:n.149G>C
ENST00000591880.1:c.113G>C	ENSP00000467530.1:p.Arg38Pro
ENST00000592065.1:n.41G>C
ENST00000592706.5:n.119G>C
NM_002055.4:c.1247G>C	NP_002046.1:p.Arg416Pro
NM_001363846.1:c.1367G>C	NP_001350775.1:p.Arg456Pro
XM_024450690.1:c.1571G>C	XP_024306458.1:p.Arg524Pro
XM_024450692.1:c.1451G>C	XP_024306460.1:p.Arg484Pro
NM_002055.5:c.1247G>C MANE Select	NP_002046.1:p.Arg416Pro
NM_001363846.2:c.1367G>C	NP_001350775.1:p.Arg456Pro