Canonical Allele Identifier: CA626225338

Gene: GFAP

Linked Data

• dbSNP Id: rs1448038583
• gnomAD v2: 17-42985258-G-T
• gnomAD v4: 17-44907890-G-T
• MyVariant Identifiers: chr17:g.42985258G>T (hg19) ; chr17:g.44907890G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44907890G>T , CM000679.2:g.44907890G>T	GRCh38
NC_000017.10:g.42985258G>T , CM000679.1:g.42985258G>T	GRCh37
NC_000017.9:g.40340784G>T	NCBI36
NG_008401.1:g.12657C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1377+174C>A	ENSP00000253408.5:n.1377+174C>A
ENST00000253408.10:c.1377+174C>A	ENSP00000253408.5:n.1377+174C>A
ENST00000441312.2:n.110+174C>A
ENST00000585543.6:n.410+174C>A
ENST00000586125.2:c.366C>A	ENSP00000467397.2:p.Val122=
ENST00000588735.3:c.1257+174C>A MANE Select	ENSP00000466598.2:n.1257+174C>A
ENST00000589701.2:n.2164+174C>A
ENST00000591880.2:c.530C>A
ENST00000592065.2:n.625+174C>A
ENST00000638304.1:c.176+174C>A
ENST00000638400.1:c.92+174C>A
ENST00000638488.1:n.721+174C>A
ENST00000638618.1:c.912+174C>A	ENSP00000492832.1:n.912+174C>A
ENST00000638921.1:n.358C>A
ENST00000639042.1:c.229+174C>A
ENST00000639243.1:c.13+174C>A
ENST00000639277.1:c.1257+174C>A	ENSP00000492432.1:n.1257+174C>A
ENST00000639369.1:c.107+174C>A
ENST00000640545.1:c.63+174C>A	ENSP00000491735.1:n.63+174C>A
ENST00000640859.1:c.71+174C>A
ENST00000253408.9:c.1257+174C>A	ENSP00000253408.4:n.1257+174C>A
ENST00000585543.5:n.410+174C>A
ENST00000588735.1:c.135+174C>A	ENSP00000466598.1:n.135+174C>A
ENST00000589701.1:n.159+174C>A
ENST00000591880.1:c.297C>A	ENSP00000467530.1:p.Val99=
ENST00000592065.1:n.51+174C>A
ENST00000592706.5:n.129+174C>A
NM_002055.4:c.1257+174C>A	NP_002046.1:n.1257+174C>A
NM_001363846.1:c.1377+174C>A	NP_001350775.1:n.1377+174C>A
XM_024450690.1:c.1581+174C>A	XP_024306458.1:n.1581+174C>A
XM_024450692.1:c.1461+174C>A	XP_024306460.1:n.1461+174C>A
NM_002055.5:c.1257+174C>A MANE Select	NP_002046.1:n.1257+174C>A
NM_001363846.2:c.1377+174C>A	NP_001350775.1:n.1377+174C>A