Canonical Allele Identifier: CA4917563

Gene: FAM83H

Linked Data

• ClinVar Variation Id: 3040856
• ClinVar RCV Id: RCV003927196
• dbSNP Id: rs781816023
• ExAC: 8:144810746 G / A
• gnomAD v2: 8-144810746-G-A
• gnomAD v3: 8-143728576-G-A
• gnomAD v4: 8-143728576-G-A
• MyVariant Identifiers: chr8:g.144810746G>A (hg19) ; chr8:g.143728576G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728576G>A , CM000670.2:g.143728576G>A	GRCh38
NC_000008.10:g.144810746G>A , CM000670.1:g.144810746G>A	GRCh37
NC_000008.9:g.144882734G>A	NCBI36
NG_016652.1:g.10169C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.885C>T MANE Select	ENSP00000373565.3:p.Asp295=
ENST00000650760.1:c.1488C>T	ENSP00000499217.1:p.Asp496=
ENST00000388913.3:c.885C>T	ENSP00000373565.3:p.Asp295=
ENST00000395103.2:c.65C>T
NM_198488.3:c.885C>T	NP_940890.3:p.Asp295=
XM_005250887.2:c.942C>T	XP_005250944.1:p.Asp314=
XM_005250888.2:c.903C>T	XP_005250945.1:p.Asp301=
XM_005250889.2:c.885C>T	XP_005250946.1:p.Asp295=
XM_011516980.1:c.1206C>T	XP_011515282.1:p.Asp402=
XM_011516981.1:c.1053C>T	XP_011515283.1:p.Asp351=
XM_005250887.3:c.942C>T	XP_005250944.1:p.Asp314=
XM_005250888.3:c.903C>T	XP_005250945.1:p.Asp301=
XM_005250889.3:c.885C>T	XP_005250946.1:p.Asp295=
XM_011516980.2:c.1488C>T	XP_011515282.2:p.Asp496=
XM_011516981.2:c.1053C>T	XP_011515283.1:p.Asp351=
XM_024447131.1:c.885C>T	XP_024302899.1:p.Asp295=
NM_198488.4:c.885C>T	NP_940890.3:p.Asp295=
NM_198488.5:c.885C>T MANE Select	NP_940890.4:p.Asp295=