Canonical Allele Identifier: CA372469377

Gene: FAM83H

Linked Data

• MyVariant Identifiers: chr8:g.144810792T>A (hg19) ; chr8:g.143728622T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728622T>A , CM000670.2:g.143728622T>A	GRCh38
NC_000008.10:g.144810792T>A , CM000670.1:g.144810792T>A	GRCh37
NC_000008.9:g.144882780T>A	NCBI36
NG_016652.1:g.10123A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.839A>T MANE Select	ENSP00000373565.3:p.Gln280Leu
ENST00000650760.1:c.1442A>T	ENSP00000499217.1:p.Gln481Leu
ENST00000388913.3:c.839A>T	ENSP00000373565.3:p.Gln280Leu
ENST00000395103.2:c.19A>T
NM_198488.3:c.839A>T	NP_940890.3:p.Gln280Leu
XM_005250887.2:c.896A>T	XP_005250944.1:p.Gln299Leu
XM_005250888.2:c.857A>T	XP_005250945.1:p.Gln286Leu
XM_005250889.2:c.839A>T	XP_005250946.1:p.Gln280Leu
XM_011516980.1:c.1160A>T	XP_011515282.1:p.Gln387Leu
XM_011516981.1:c.1007A>T	XP_011515283.1:p.Gln336Leu
XM_005250887.3:c.896A>T	XP_005250944.1:p.Gln299Leu
XM_005250888.3:c.857A>T	XP_005250945.1:p.Gln286Leu
XM_005250889.3:c.839A>T	XP_005250946.1:p.Gln280Leu
XM_011516980.2:c.1442A>T	XP_011515282.2:p.Gln481Leu
XM_011516981.2:c.1007A>T	XP_011515283.1:p.Gln336Leu
XM_024447131.1:c.839A>T	XP_024302899.1:p.Gln280Leu
NM_198488.4:c.839A>T	NP_940890.3:p.Gln280Leu
NM_198488.5:c.839A>T MANE Select	NP_940890.4:p.Gln280Leu