Canonical Allele Identifier: CA941611

Gene: GBP4

Linked Data

• ClinVar Variation Id: 781583
• ClinVar RCV Id: RCV000962829
• dbSNP Id: rs61738489
• ExAC: 1:89656974 G / A
• gnomAD v2: 1-89656974-G-A
• gnomAD v3: 1-89191291-G-A
• gnomAD v4: 1-89191291-G-A
• MyVariant Identifiers: chr1:g.89656974G>A (hg19) ; chr1:g.89191291G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.89191291G>A , CM000663.2:g.89191291G>A	GRCh38
NC_000001.10:g.89656974G>A , CM000663.1:g.89656974G>A	GRCh37
NC_000001.9:g.89429562G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355754.7:c.886C>T MANE Select	ENSP00000359490.5:p.Leu296=
ENST00000355754.6:c.886C>T	ENSP00000359490.5:p.Leu296=
NM_052941.4:c.886C>T	NP_443173.2:p.Leu296=
NM_052941.5:c.886C>T MANE Select	NP_443173.2:p.Leu296=