Canonical Allele Identifier: CA372469368

Gene: FAM83H

Linked Data

• gnomAD v4: 8-143728617-C-G
• MyVariant Identifiers: chr8:g.144810787C>G (hg19) ; chr8:g.143728617C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728617C>G , CM000670.2:g.143728617C>G	GRCh38
NC_000008.10:g.144810787C>G , CM000670.1:g.144810787C>G	GRCh37
NC_000008.9:g.144882775C>G	NCBI36
NG_016652.1:g.10128G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.844G>C MANE Select	ENSP00000373565.3:p.Glu282Gln
ENST00000650760.1:c.1447G>C	ENSP00000499217.1:p.Glu483Gln
ENST00000388913.3:c.844G>C	ENSP00000373565.3:p.Glu282Gln
ENST00000395103.2:c.24G>C
NM_198488.3:c.844G>C	NP_940890.3:p.Glu282Gln
XM_005250887.2:c.901G>C	XP_005250944.1:p.Glu301Gln
XM_005250888.2:c.862G>C	XP_005250945.1:p.Glu288Gln
XM_005250889.2:c.844G>C	XP_005250946.1:p.Glu282Gln
XM_011516980.1:c.1165G>C	XP_011515282.1:p.Glu389Gln
XM_011516981.1:c.1012G>C	XP_011515283.1:p.Glu338Gln
XM_005250887.3:c.901G>C	XP_005250944.1:p.Glu301Gln
XM_005250888.3:c.862G>C	XP_005250945.1:p.Glu288Gln
XM_005250889.3:c.844G>C	XP_005250946.1:p.Glu282Gln
XM_011516980.2:c.1447G>C	XP_011515282.2:p.Glu483Gln
XM_011516981.2:c.1012G>C	XP_011515283.1:p.Glu338Gln
XM_024447131.1:c.844G>C	XP_024302899.1:p.Glu282Gln
NM_198488.4:c.844G>C	NP_940890.3:p.Glu282Gln
NM_198488.5:c.844G>C MANE Select	NP_940890.4:p.Glu282Gln