Canonical Allele Identifier: CA5893562

Gene: FAR1

Linked Data

• ClinVar Variation Id: 710940
• ClinVar RCV Id: RCV000882619
• dbSNP Id: rs567066123
• ExAC: 11:13750213 C / T
• gnomAD v2: 11-13750213-C-T
• gnomAD v3: 11-13728666-C-T
• gnomAD v4: 11-13728666-C-T
• MyVariant Identifiers: chr11:g.13750213C>T (hg19) ; chr11:g.13728666C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.13728666C>T , CM000673.2:g.13728666C>T	GRCh38
NC_000011.9:g.13750213C>T , CM000673.1:g.13750213C>T	GRCh37
NC_000011.8:g.13706789C>T	NCBI36
NG_041826.1:g.65008C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703358.1:c.*265C>T	ENSP00000515269.1:n.*265C>T
ENST00000354817.8:c.1440C>T MANE Select	ENSP00000346874.3:p.Arg480=
ENST00000354817.7:c.1440C>T	ENSP00000346874.3:p.Arg480=
ENST00000532502.1:c.312C>T	ENSP00000434624.1:p.Arg104=
NM_032228.5:c.1440C>T	NP_115604.1:p.Arg480=
XM_011520400.1:c.1449C>T	XP_011518702.1:p.Arg483=
XM_011520401.1:c.1272C>T	XP_011518703.1:p.Arg424=
XM_011520400.2:c.1449C>T	XP_011518702.1:p.Arg483=
NM_032228.6:c.1440C>T MANE Select	NP_115604.1:p.Arg480=