Canonical Allele Identifier: CA8609142

Gene: GFAP

Linked Data

• dbSNP Id: rs752251278
• ExAC: 17:42992872 C / T
• gnomAD v2: 17-42992872-C-T
• gnomAD v3: 17-44915504-C-T
• gnomAD v4: 17-44915504-C-T
• MyVariant Identifiers: chr17:g.42992872C>T (hg19) ; chr17:g.44915504C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44915504C>T , CM000679.2:g.44915504C>T	GRCh38
NC_000017.10:g.42992872C>T , CM000679.1:g.42992872C>T	GRCh37
NC_000017.9:g.40348398C>T	NCBI36
NG_008401.1:g.5043G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592320.6:c.-18G>A	ENSP00000465320.1:n.-18G>A
ENST00000253408.9:c.-18G>A	ENSP00000253408.4:n.-18G>A
ENST00000588957.5:c.-272+313G>A	ENSP00000465565.1:n.-272+313G>A
ENST00000592320.5:c.-18G>A	ENSP00000465320.1:n.-18G>A
ENST00000593179.1:c.-18G>A	ENSP00000467106.1:n.-18G>A
NM_001131019.2:c.-18G>A	NP_001124491.1:n.-18G>A
NM_001242376.1:c.-18G>A	NP_001229305.1:n.-18G>A
NM_002055.4:c.-18G>A	NP_002046.1:n.-18G>A
NM_001363846.1:c.-18G>A	NP_001350775.1:n.-18G>A
XM_024450690.1:c.-18G>A	XP_024306458.1:n.-18G>A
XM_024450691.1:c.-18G>A	XP_024306459.1:n.-18G>A
XM_024450692.1:c.-18G>A	XP_024306460.1:n.-18G>A
XM_024450693.1:c.-18G>A	XP_024306461.1:n.-18G>A