Canonical Allele Identifier: CA1678948

Gene: FAM161A

Linked Data

• ClinVar Variation Id: 336733
• ClinVar RCV Id: RCV000336675 ; RCV000625246 ; RCV000734472 ; RCV001700069
• dbSNP Id: rs138464813
• ExAC: 2:62053677 A / G
• gnomAD v2: 2-62053677-A-G
• gnomAD v3: 2-61826542-A-G
• gnomAD v4: 2-61826542-A-G
• MyVariant Identifiers: chr2:g.62053677A>G (hg19) ; chr2:g.61826542A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.61826542A>G , CM000664.2:g.61826542A>G	GRCh38
NC_000002.11:g.62053677A>G , CM000664.1:g.62053677A>G	GRCh37
NC_000002.10:g.61907181A>G	NCBI36
NG_028125.1:g.32602T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404929.6:c.2064T>C MANE Select	ENSP00000385158.1:p.Ile688=
ENST00000404929.5:c.2064T>C	ENSP00000385158.1:p.Ile688=
ENST00000405894.3:c.1896T>C	ENSP00000385893.3:p.Ile632=
ENST00000418113.5:c.2341T>C
ENST00000456262.5:c.*1411T>C	ENSP00000396105.1:n.*1411T>C
NM_001201543.1:c.2064T>C	NP_001188472.1:p.Ile688=
NM_032180.2:c.1896T>C	NP_115556.2:p.Ile632=
NR_037710.1:n.1942T>C
XR_939724.1:n.3367+562T>C
XM_017005072.1:c.1569T>C	XP_016860561.1:p.Ile523=
XM_017005073.1:c.1494T>C	XP_016860562.1:p.Ile498=
XM_017005074.1:c.1326T>C	XP_016860563.1:p.Ile442=
XR_001738972.2:n.2007+562T>C
XR_001738973.2:n.1839+562T>C
XR_001738974.2:n.2007+562T>C
XR_001738976.1:n.2035+562T>C
XR_001738977.1:n.1867+562T>C
NM_001201543.2:c.2064T>C MANE Select	NP_001188472.1:p.Ile688=
NM_032180.3:c.1896T>C	NP_115556.2:p.Ile632=
NR_037710.2:n.1859T>C