Canonical Allele Identifier: CA463519716

Gene: FAM83H

Linked Data

• dbSNP Id: rs1554623424
• gnomAD v4: 8-143728471-G-A
• MyVariant Identifiers: chr8:g.144810641G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728471G>A , CM000670.2:g.143728471G>A	GRCh38
NC_000008.10:g.144810641G>A , CM000670.1:g.144810641G>A	GRCh37
NC_000008.9:g.144882629G>A	NCBI36
NG_016652.1:g.10274C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.990C>T MANE Select	ENSP00000373565.3:p.Phe330=
ENST00000650760.1:c.1593C>T	ENSP00000499217.1:p.Phe531=
ENST00000388913.3:c.990C>T	ENSP00000373565.3:p.Phe330=
ENST00000395103.2:c.170C>T
NM_198488.3:c.990C>T	NP_940890.3:p.Phe330=
XM_005250887.2:c.1047C>T	XP_005250944.1:p.Phe349=
XM_005250888.2:c.1008C>T	XP_005250945.1:p.Phe336=
XM_005250889.2:c.990C>T	XP_005250946.1:p.Phe330=
XM_011516980.1:c.1311C>T	XP_011515282.1:p.Phe437=
XM_011516981.1:c.1158C>T	XP_011515283.1:p.Phe386=
XM_005250887.3:c.1047C>T	XP_005250944.1:p.Phe349=
XM_005250888.3:c.1008C>T	XP_005250945.1:p.Phe336=
XM_005250889.3:c.990C>T	XP_005250946.1:p.Phe330=
XM_011516980.2:c.1593C>T	XP_011515282.2:p.Phe531=
XM_011516981.2:c.1158C>T	XP_011515283.1:p.Phe386=
XM_024447131.1:c.990C>T	XP_024302899.1:p.Phe330=
NM_198488.4:c.990C>T	NP_940890.3:p.Phe330=
NM_198488.5:c.990C>T MANE Select	NP_940890.4:p.Phe330=