Canonical Allele Identifier: CA372468955

Gene: FAM83H

Linked Data

• dbSNP Id: rs1554623438
• gnomAD v2: 8-144810654-G-A
• gnomAD v3: 8-143728484-G-A
• gnomAD v4: 8-143728484-G-A
• MyVariant Identifiers: chr8:g.144810654G>A (hg19) ; chr8:g.143728484G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728484G>A , CM000670.2:g.143728484G>A	GRCh38
NC_000008.10:g.144810654G>A , CM000670.1:g.144810654G>A	GRCh37
NC_000008.9:g.144882642G>A	NCBI36
NG_016652.1:g.10261C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.977C>T MANE Select	ENSP00000373565.3:p.Ala326Val
ENST00000650760.1:c.1580C>T	ENSP00000499217.1:p.Ala527Val
ENST00000388913.3:c.977C>T	ENSP00000373565.3:p.Ala326Val
ENST00000395103.2:c.157C>T
NM_198488.3:c.977C>T	NP_940890.3:p.Ala326Val
XM_005250887.2:c.1034C>T	XP_005250944.1:p.Ala345Val
XM_005250888.2:c.995C>T	XP_005250945.1:p.Ala332Val
XM_005250889.2:c.977C>T	XP_005250946.1:p.Ala326Val
XM_011516980.1:c.1298C>T	XP_011515282.1:p.Ala433Val
XM_011516981.1:c.1145C>T	XP_011515283.1:p.Ala382Val
XM_005250887.3:c.1034C>T	XP_005250944.1:p.Ala345Val
XM_005250888.3:c.995C>T	XP_005250945.1:p.Ala332Val
XM_005250889.3:c.977C>T	XP_005250946.1:p.Ala326Val
XM_011516980.2:c.1580C>T	XP_011515282.2:p.Ala527Val
XM_011516981.2:c.1145C>T	XP_011515283.1:p.Ala382Val
XM_024447131.1:c.977C>T	XP_024302899.1:p.Ala326Val
NM_198488.4:c.977C>T	NP_940890.3:p.Ala326Val
NM_198488.5:c.977C>T MANE Select	NP_940890.4:p.Ala326Val