Canonical Allele Identifier: CA4917573

Gene: FAM83H

Linked Data

• dbSNP Id: rs137854442
• ExAC: 8:144810771 G / A
• gnomAD v2: 8-144810771-G-A
• gnomAD v3: 8-143728601-G-A
• gnomAD v4: 8-143728601-G-A
• COSMIC: COSM3778972
• MyVariant Identifiers: chr8:g.144810771G>A (hg19) ; chr8:g.143728601G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728601G>A , CM000670.2:g.143728601G>A	GRCh38
NC_000008.10:g.144810771G>A , CM000670.1:g.144810771G>A	GRCh37
NC_000008.9:g.144882759G>A	NCBI36
NG_016652.1:g.10144C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.860C>T MANE Select	ENSP00000373565.3:p.Ser287Leu
ENST00000650760.1:c.1463C>T	ENSP00000499217.1:p.Ser488Leu
ENST00000388913.3:c.860C>T	ENSP00000373565.3:p.Ser287Leu
ENST00000395103.2:c.40C>T
NM_198488.3:c.860C>T	NP_940890.3:p.Ser287Leu
XM_005250887.2:c.917C>T	XP_005250944.1:p.Ser306Leu
XM_005250888.2:c.878C>T	XP_005250945.1:p.Ser293Leu
XM_005250889.2:c.860C>T	XP_005250946.1:p.Ser287Leu
XM_011516980.1:c.1181C>T	XP_011515282.1:p.Ser394Leu
XM_011516981.1:c.1028C>T	XP_011515283.1:p.Ser343Leu
XM_005250887.3:c.917C>T	XP_005250944.1:p.Ser306Leu
XM_005250888.3:c.878C>T	XP_005250945.1:p.Ser293Leu
XM_005250889.3:c.860C>T	XP_005250946.1:p.Ser287Leu
XM_011516980.2:c.1463C>T	XP_011515282.2:p.Ser488Leu
XM_011516981.2:c.1028C>T	XP_011515283.1:p.Ser343Leu
XM_024447131.1:c.860C>T	XP_024302899.1:p.Ser287Leu
NM_198488.4:c.860C>T	NP_940890.3:p.Ser287Leu
NM_198488.5:c.860C>T MANE Select	NP_940890.4:p.Ser287Leu