Canonical Allele Identifier: CA463520018

Gene: FAM83H

Linked Data

• dbSNP Id: rs2129678692
• gnomAD v4: 8-143728567-G-A
• MyVariant Identifiers: chr8:g.144810737G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728567G>A , CM000670.2:g.143728567G>A	GRCh38
NC_000008.10:g.144810737G>A , CM000670.1:g.144810737G>A	GRCh37
NC_000008.9:g.144882725G>A	NCBI36
NG_016652.1:g.10178C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.894C>T MANE Select	ENSP00000373565.3:p.Ala298=
ENST00000650760.1:c.1497C>T	ENSP00000499217.1:p.Ala499=
ENST00000388913.3:c.894C>T	ENSP00000373565.3:p.Ala298=
ENST00000395103.2:c.74C>T
NM_198488.3:c.894C>T	NP_940890.3:p.Ala298=
XM_005250887.2:c.951C>T	XP_005250944.1:p.Ala317=
XM_005250888.2:c.912C>T	XP_005250945.1:p.Ala304=
XM_005250889.2:c.894C>T	XP_005250946.1:p.Ala298=
XM_011516980.1:c.1215C>T	XP_011515282.1:p.Ala405=
XM_011516981.1:c.1062C>T	XP_011515283.1:p.Ala354=
XM_005250887.3:c.951C>T	XP_005250944.1:p.Ala317=
XM_005250888.3:c.912C>T	XP_005250945.1:p.Ala304=
XM_005250889.3:c.894C>T	XP_005250946.1:p.Ala298=
XM_011516980.2:c.1497C>T	XP_011515282.2:p.Ala499=
XM_011516981.2:c.1062C>T	XP_011515283.1:p.Ala354=
XM_024447131.1:c.894C>T	XP_024302899.1:p.Ala298=
NM_198488.4:c.894C>T	NP_940890.3:p.Ala298=
NM_198488.5:c.894C>T MANE Select	NP_940890.4:p.Ala298=