Canonical Allele Identifier: CA8608632

Gene: GFAP

Linked Data

• ClinVar Variation Id: 1920670
• ClinVar RCV Id: RCV002591270
• dbSNP Id: rs746173968
• ExAC: 17:42985520 G / A
• gnomAD v2: 17-42985520-G-A
• gnomAD v4: 17-44908152-G-A
• MyVariant Identifiers: chr17:g.42985520G>A (hg19) ; chr17:g.44908152G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44908152G>A , CM000679.2:g.44908152G>A	GRCh38
NC_000017.10:g.42985520G>A , CM000679.1:g.42985520G>A	GRCh37
NC_000017.9:g.40341046G>A	NCBI36
NG_008401.1:g.12395C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1292-3C>T	ENSP00000253408.5:n.1292-3C>T
ENST00000253408.10:c.1292-3C>T	ENSP00000253408.5:n.1292-3C>T
ENST00000441312.2:n.25-3C>T
ENST00000585543.6:n.325-3C>T
ENST00000586125.2:c.107-3C>T	ENSP00000467397.2:n.107-3C>T
ENST00000588735.3:c.1172-3C>T MANE Select	ENSP00000466598.2:n.1172-3C>T
ENST00000589701.2:n.2076C>T
ENST00000591880.2:c.271-3C>T
ENST00000592065.2:n.537C>T
ENST00000638304.1:c.91-3C>T
ENST00000638400.1:c.7-3C>T
ENST00000638488.1:n.636-3C>T
ENST00000638618.1:c.827-3C>T	ENSP00000492832.1:n.827-3C>T
ENST00000638921.1:n.96C>T
ENST00000639042.1:c.144-3C>T
ENST00000639277.1:c.1172-3C>T	ENSP00000492432.1:n.1172-3C>T
ENST00000639369.1:c.22-3C>T
ENST00000253408.9:c.1172-3C>T	ENSP00000253408.4:n.1172-3C>T
ENST00000585543.5:n.325-3C>T
ENST00000586125.1:c.143-3C>T	ENSP00000467397.1:n.143-3C>T
ENST00000588640.5:n.552-3C>T
ENST00000588735.1:c.83-36C>T	ENSP00000466598.1:n.83-36C>T
ENST00000589701.1:n.71C>T
ENST00000591880.1:c.38-3C>T	ENSP00000467530.1:n.38-3C>T
ENST00000592706.5:n.44-3C>T
NM_002055.4:c.1172-3C>T	NP_002046.1:n.1172-3C>T
NM_001363846.1:c.1292-3C>T	NP_001350775.1:n.1292-3C>T
XM_024450690.1:c.1496-3C>T	XP_024306458.1:n.1496-3C>T
XM_024450692.1:c.1376-3C>T	XP_024306460.1:n.1376-3C>T
NM_002055.5:c.1172-3C>T MANE Select	NP_002046.1:n.1172-3C>T
NM_001363846.2:c.1292-3C>T	NP_001350775.1:n.1292-3C>T