Canonical Allele Identifier: CA372468946

Gene: FAM83H

Linked Data

• gnomAD v4: 8-143728479-G-T
• COSMIC: COSM5998192
• MyVariant Identifiers: chr8:g.144810649G>T (hg19) ; chr8:g.143728479G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728479G>T , CM000670.2:g.143728479G>T	GRCh38
NC_000008.10:g.144810649G>T , CM000670.1:g.144810649G>T	GRCh37
NC_000008.9:g.144882637G>T	NCBI36
NG_016652.1:g.10266C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.982C>A MANE Select	ENSP00000373565.3:p.Leu328Ile
ENST00000650760.1:c.1585C>A	ENSP00000499217.1:p.Leu529Ile
ENST00000388913.3:c.982C>A	ENSP00000373565.3:p.Leu328Ile
ENST00000395103.2:c.162C>A
NM_198488.3:c.982C>A	NP_940890.3:p.Leu328Ile
XM_005250887.2:c.1039C>A	XP_005250944.1:p.Leu347Ile
XM_005250888.2:c.1000C>A	XP_005250945.1:p.Leu334Ile
XM_005250889.2:c.982C>A	XP_005250946.1:p.Leu328Ile
XM_011516980.1:c.1303C>A	XP_011515282.1:p.Leu435Ile
XM_011516981.1:c.1150C>A	XP_011515283.1:p.Leu384Ile
XM_005250887.3:c.1039C>A	XP_005250944.1:p.Leu347Ile
XM_005250888.3:c.1000C>A	XP_005250945.1:p.Leu334Ile
XM_005250889.3:c.982C>A	XP_005250946.1:p.Leu328Ile
XM_011516980.2:c.1585C>A	XP_011515282.2:p.Leu529Ile
XM_011516981.2:c.1150C>A	XP_011515283.1:p.Leu384Ile
XM_024447131.1:c.982C>A	XP_024302899.1:p.Leu328Ile
NM_198488.4:c.982C>A	NP_940890.3:p.Leu328Ile
NM_198488.5:c.982C>A MANE Select	NP_940890.4:p.Leu328Ile