Canonical Allele Identifier: CA200297587

Gene: FPGS

Linked Data

• dbSNP Id: rs945491784
• gnomAD v3: 9-127813884-C-G
• gnomAD v4: 9-127813884-C-G
• MyVariant Identifiers: chr9:g.130576163C>G (hg19) ; chr9:g.127813884C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813884C>G , CM000671.2:g.127813884C>G	GRCh38
NC_000009.11:g.130576163C>G , CM000671.1:g.130576163C>G	GRCh37
NC_000009.10:g.129615984C>G	NCBI36
NG_009551.1:g.45885G>C , LRG_589:g.45885G>C
NG_023245.1:g.16010C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.*280C>G MANE Select	ENSP00000362344.2:n.*280C>G
ENST00000373225.7:c.*280C>G	ENSP00000362322.3:n.*280C>G
ENST00000373247.6:c.*280C>G	ENSP00000362344.2:n.*280C>G
ENST00000393706.6:c.*280C>G	ENSP00000377309.2:n.*280C>G
ENST00000460181.5:n.2032C>G
ENST00000467826.5:n.710-324C>G
ENST00000630236.2:c.*768C>G	ENSP00000486766.1:n.*768C>G
NM_001018078.2:c.*280C>G	NP_001018088.1:n.*280C>G
NM_001288803.1:c.*280C>G	NP_001275732.1:n.*280C>G
NM_004957.5:c.*280C>G	NP_004948.4:n.*280C>G
NR_110170.1:n.2092C>G
XM_005251864.2:c.1484-324C>G	XP_005251921.1:n.1484-324C>G
XM_011518437.1:c.*280C>G	XP_011516739.1:n.*280C>G
XM_011518438.1:c.*280C>G	XP_011516740.1:n.*280C>G
XM_011518439.1:c.*280C>G	XP_011516741.1:n.*280C>G
XR_242581.2:n.1941C>G
XR_242582.2:n.1381-324C>G
XM_005251864.4:c.1484-324C>G	XP_005251921.1:n.1484-324C>G
XM_011518439.2:c.*280C>G	XP_011516741.1:n.*280C>G
XM_017014565.2:c.1334-324C>G	XP_016870054.1:n.1334-324C>G
XM_017014566.1:c.*280C>G	XP_016870055.1:n.*280C>G
XR_242581.4:n.1939C>G
XR_242582.4:n.1379-324C>G
NM_004957.6:c.*280C>G MANE Select	NP_004948.4:n.*280C>G