Canonical Allele Identifier: CA1678858

Gene: FAM161A

Linked Data

• ClinVar Variation Id: 336719
• ClinVar RCV Id: RCV000354457 ; RCV003437073
• dbSNP Id: rs78512710
• ExAC: 2:62052490 A / G
• gnomAD v2: 2-62052490-A-G
• gnomAD v3: 2-61825355-A-G
• gnomAD v4: 2-61825355-A-G
• MyVariant Identifiers: chr2:g.62052490A>G (hg19) ; chr2:g.61825355A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.61825355A>G , CM000664.2:g.61825355A>G	GRCh38
NC_000002.11:g.62052490A>G , CM000664.1:g.62052490A>G	GRCh37
NC_000002.10:g.61905994A>G	NCBI36
NG_028125.1:g.33789T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404929.6:c.*1100T>C MANE Select	ENSP00000385158.1:n.*1100T>C
ENST00000404929.5:c.*1100T>C	ENSP00000385158.1:n.*1100T>C
ENST00000405894.3:c.*1100T>C	ENSP00000385893.3:n.*1100T>C
ENST00000418113.5:c.3528T>C
ENST00000456262.5:c.*2598T>C	ENSP00000396105.1:n.*2598T>C
NM_001201543.1:c.*1100T>C	NP_001188472.1:n.*1100T>C
NM_032180.2:c.*1100T>C	NP_115556.2:n.*1100T>C
NR_037710.1:n.3129T>C
XR_939724.1:n.3367+1749T>C
XM_017005072.1:c.*1100T>C	XP_016860561.1:n.*1100T>C
XM_017005073.1:c.*1100T>C	XP_016860562.1:n.*1100T>C
XM_017005074.1:c.*1100T>C	XP_016860563.1:n.*1100T>C
XR_001738972.2:n.2007+1749T>C
XR_001738973.2:n.1839+1749T>C
XR_001738974.2:n.2007+1749T>C
XR_001738976.1:n.2035+1749T>C
XR_001738977.1:n.1867+1749T>C
NM_001201543.2:c.*1100T>C MANE Select	NP_001188472.1:n.*1100T>C
NM_032180.3:c.*1100T>C	NP_115556.2:n.*1100T>C
NR_037710.2:n.3046T>C