Canonical Allele Identifier: CA223829

Gene: FAM161A

Linked Data

• ClinVar Variation Id: 96216
• ClinVar RCV Id: RCV000416124 ; RCV001138007 ; RCV001274720 ; RCV003952528
• dbSNP Id: rs139266382
• ExAC: 2:62066986 G / C
• gnomAD v2: 2-62066986-G-C
• gnomAD v3: 2-61839851-G-C
• gnomAD v4: 2-61839851-G-C
• MyVariant Identifiers: chr2:g.62066986G>C (hg19) ; chr2:g.61839851G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.61839851G>C , CM000664.2:g.61839851G>C	GRCh38
NC_000002.11:g.62066986G>C , CM000664.1:g.62066986G>C	GRCh37
NC_000002.10:g.61920490G>C	NCBI36
NG_028125.1:g.19293C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404929.6:c.1153C>G MANE Select	ENSP00000385158.1:p.Gln385Glu
ENST00000307507.3:c.*1163C>G	ENSP00000303170.3:n.*1163C>G
ENST00000404929.5:c.1153C>G	ENSP00000385158.1:p.Gln385Glu
ENST00000405894.3:c.1153C>G	ENSP00000385893.3:p.Gln385Glu
ENST00000418113.5:c.1140C>G
ENST00000456262.5:c.*668C>G	ENSP00000396105.1:n.*668C>G
NM_001201543.1:c.1153C>G	NP_001188472.1:p.Gln385Glu
NM_032180.2:c.1153C>G	NP_115556.2:p.Gln385Glu
NR_037710.1:n.1199C>G
XR_939724.1:n.2514C>G
XM_017005072.1:c.826C>G	XP_016860561.1:p.Gln276Glu
XM_017005073.1:c.583C>G	XP_016860562.1:p.Gln195Glu
XM_017005074.1:c.583C>G	XP_016860563.1:p.Gln195Glu
XR_001738972.2:n.1154C>G
XR_001738973.2:n.1154C>G
XR_001738974.2:n.1154C>G
XR_001738975.2:n.1154C>G
XR_001738976.1:n.1182C>G
XR_001738977.1:n.1182C>G
NM_001201543.2:c.1153C>G MANE Select	NP_001188472.1:p.Gln385Glu
NM_032180.3:c.1153C>G	NP_115556.2:p.Gln385Glu
NR_037710.2:n.1116C>G