Canonical Allele Identifier: CA126420
Gene: FGG HGNC NCBI

Linked Data

ClinVar Variation Id: 16377
ClinVar RCV Id: RCV000017799
dbSNP Id: rs587776838

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154612013C>T , CM000666.2:g.154612013C>T GRCh38
NC_000004.11:g.155533165C>T , CM000666.1:g.155533165C>T GRCh37
NC_000004.10:g.155752615C>T NCBI36
NG_008834.1:g.5738G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336098.8:c.307+5G>A MANE Select ENSP00000336829.3:n.307+5G>A
ENST00000336098.7:c.307+5G>A ENSP00000336829.3:n.307+5G>A
ENST00000393846.6:c.-3+5G>A ENSP00000377429.2:n.-3+5G>A
ENST00000404648.7:c.307+5G>A ENSP00000384860.3:n.307+5G>A
ENST00000405164.5:c.307+5G>A ENSP00000384101.1:n.307+5G>A
ENST00000407946.5:c.307+5G>A ENSP00000384552.1:n.307+5G>A
ENST00000443553.5:c.-3+5G>A ENSP00000407562.1:n.-3+5G>A
ENST00000464532.5:n.354+5G>A
ENST00000465336.1:n.548G>A
ENST00000473393.5:n.333+5G>A
ENST00000484695.1:n.314G>A
ENST00000492082.5:n.546+5G>A
NM_000509.4:c.307+5G>A NP_000500.2:n.307+5G>A
NM_000509.5:c.307+5G>A NP_000500.2:n.307+5G>A
NM_021870.2:c.307+5G>A NP_068656.2:n.307+5G>A
NM_021870.3:c.307+5G>A MANE Select NP_068656.2:n.307+5G>A
NM_000509.6:c.307+5G>A NP_000500.2:n.307+5G>A