Canonical Allele Identifier: CA233978

Gene: FAM161A

Linked Data

• ClinVar Variation Id: 36
• ClinVar RCV Id: RCV000000053 ; RCV000153226 ; RCV000678572 ; RCV000787604 ; RCV000778621
• dbSNP Id: rs200691042
• ExAC: 2:62066830 T / A
• gnomAD v2: 2-62066830-T-A
• gnomAD v3: 2-61839695-T-A
• gnomAD v4: 2-61839695-T-A
• MyVariant Identifiers: chr2:g.62066830T>A (hg19) ; chr2:g.61839695T>A (hg38)
• PubMed: PMID:20705278 ; PMID:23891399 ; PMID:25525159 ; PMID:26574802

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.61839695T>A , CM000664.2:g.61839695T>A	GRCh38
NC_000002.11:g.62066830T>A , CM000664.1:g.62066830T>A	GRCh37
NC_000002.10:g.61920334T>A	NCBI36
NG_028125.1:g.19449A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404929.6:c.1309A>T MANE Select	ENSP00000385158.1:p.Arg437Ter
ENST00000307507.3:c.*1319A>T	ENSP00000303170.3:n.*1319A>T
ENST00000404929.5:c.1309A>T	ENSP00000385158.1:p.Arg437Ter
ENST00000405894.3:c.1309A>T	ENSP00000385893.3:p.Arg437Ter
ENST00000418113.5:c.1296A>T
ENST00000456262.5:c.*824A>T	ENSP00000396105.1:n.*824A>T
NM_001201543.1:c.1309A>T	NP_001188472.1:p.Arg437Ter
NM_032180.2:c.1309A>T	NP_115556.2:p.Arg437Ter
NR_037710.1:n.1355A>T
XR_939724.1:n.2670A>T
XM_017005072.1:c.982A>T	XP_016860561.1:p.Arg328Ter
XM_017005073.1:c.739A>T	XP_016860562.1:p.Arg247Ter
XM_017005074.1:c.739A>T	XP_016860563.1:p.Arg247Ter
XR_001738972.2:n.1310A>T
XR_001738973.2:n.1310A>T
XR_001738974.2:n.1310A>T
XR_001738975.2:n.1310A>T
XR_001738976.1:n.1338A>T
XR_001738977.1:n.1338A>T
NM_001201543.2:c.1309A>T MANE Select	NP_001188472.1:p.Arg437Ter
NM_032180.3:c.1309A>T	NP_115556.2:p.Arg437Ter
NR_037710.2:n.1272A>T