Canonical Allele Identifier: CA1679299

Gene: FAM161A

Linked Data

• ClinVar Variation Id: 336741
• ClinVar RCV Id: RCV000269398 ; RCV000928354 ; RCV003888805
• dbSNP Id: rs377016856
• ExAC: 2:62067422 C / T
• gnomAD v2: 2-62067422-C-T
• gnomAD v3: 2-61840287-C-T
• gnomAD v4: 2-61840287-C-T
• MyVariant Identifiers: chr2:g.62067422C>T (hg19) ; chr2:g.61840287C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.61840287C>T , CM000664.2:g.61840287C>T	GRCh38
NC_000002.11:g.62067422C>T , CM000664.1:g.62067422C>T	GRCh37
NC_000002.10:g.61920926C>T	NCBI36
NG_028125.1:g.18857G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404929.6:c.717G>A MANE Select	ENSP00000385158.1:p.Pro239=
ENST00000307507.3:c.*727G>A	ENSP00000303170.3:n.*727G>A
ENST00000404929.5:c.717G>A	ENSP00000385158.1:p.Pro239=
ENST00000405894.3:c.717G>A	ENSP00000385893.3:p.Pro239=
ENST00000418113.5:c.704G>A
ENST00000456262.5:c.*232G>A	ENSP00000396105.1:n.*232G>A
NM_001201543.1:c.717G>A	NP_001188472.1:p.Pro239=
NM_032180.2:c.717G>A	NP_115556.2:p.Pro239=
NR_037710.1:n.763G>A
XR_939724.1:n.2078G>A
XM_017005072.1:c.390G>A	XP_016860561.1:p.Pro130=
XM_017005073.1:c.147G>A	XP_016860562.1:p.Pro49=
XM_017005074.1:c.147G>A	XP_016860563.1:p.Pro49=
XR_001738972.2:n.718G>A
XR_001738973.2:n.718G>A
XR_001738974.2:n.718G>A
XR_001738975.2:n.718G>A
XR_001738976.1:n.746G>A
XR_001738977.1:n.746G>A
NM_001201543.2:c.717G>A MANE Select	NP_001188472.1:p.Pro239=
NM_032180.3:c.717G>A	NP_115556.2:p.Pro239=
NR_037710.2:n.680G>A