Canonical Allele Identifier: CA200297466

Gene: FPGS

Linked Data

• dbSNP Id: rs950541074
• gnomAD v3: 9-127813835-G-C
• gnomAD v4: 9-127813835-G-C
• MyVariant Identifiers: chr9:g.130576114G>C (hg19) ; chr9:g.127813835G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813835G>C , CM000671.2:g.127813835G>C	GRCh38
NC_000009.11:g.130576114G>C , CM000671.1:g.130576114G>C	GRCh37
NC_000009.10:g.129615935G>C	NCBI36
NG_009551.1:g.45934C>G , LRG_589:g.45934C>G
NG_023245.1:g.15961G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000373247.7:c.*231G>C MANE Select	ENSP00000362344.2:n.*231G>C
ENST00000373225.7:c.*231G>C	ENSP00000362322.3:n.*231G>C
ENST00000373247.6:c.*231G>C	ENSP00000362344.2:n.*231G>C
ENST00000393706.6:c.*231G>C	ENSP00000377309.2:n.*231G>C
ENST00000460181.5:n.1983G>C
ENST00000467826.5:n.710-373G>C
ENST00000630236.2:c.*719G>C	ENSP00000486766.1:n.*719G>C
NM_001018078.2:c.*231G>C	NP_001018088.1:n.*231G>C
NM_001288803.1:c.*231G>C	NP_001275732.1:n.*231G>C
NM_004957.5:c.*231G>C	NP_004948.4:n.*231G>C
NR_110170.1:n.2043G>C
XM_005251864.2:c.1484-373G>C	XP_005251921.1:n.1484-373G>C
XM_011518437.1:c.*231G>C	XP_011516739.1:n.*231G>C
XM_011518438.1:c.*231G>C	XP_011516740.1:n.*231G>C
XM_011518439.1:c.*231G>C	XP_011516741.1:n.*231G>C
XR_242581.2:n.1892G>C
XR_242582.2:n.1381-373G>C
XM_005251864.4:c.1484-373G>C	XP_005251921.1:n.1484-373G>C
XM_011518439.2:c.*231G>C	XP_011516741.1:n.*231G>C
XM_017014565.2:c.1334-373G>C	XP_016870054.1:n.1334-373G>C
XM_017014566.1:c.*231G>C	XP_016870055.1:n.*231G>C
XR_242581.4:n.1890G>C
XR_242582.4:n.1379-373G>C
NM_004957.6:c.*231G>C MANE Select	NP_004948.4:n.*231G>C