Canonical Allele Identifier: CA114503
Gene: FAM83H HGNC NCBI

Linked Data

ClinVar Variation Id: 776
ClinVar RCV Id: RCV000000812
dbSNP Id: rs137854441

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143728053G>A , CM000670.2:g.143728053G>A GRCh38
NC_000008.10:g.144810223G>A , CM000670.1:g.144810223G>A GRCh37
NC_000008.9:g.144882211G>A NCBI36
NG_016652.1:g.10692C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000388913.4:c.1408C>T MANE Select ENSP00000373565.3:p.Gln470Ter
ENST00000650760.1:c.2011C>T ENSP00000499217.1:p.Gln671Ter
ENST00000388913.3:c.1408C>T ENSP00000373565.3:p.Gln470Ter
ENST00000395103.2:c.588C>T
NM_198488.3:c.1408C>T NP_940890.3:p.Gln470Ter
XM_005250887.2:c.1465C>T XP_005250944.1:p.Gln489Ter
XM_005250888.2:c.1426C>T XP_005250945.1:p.Gln476Ter
XM_005250889.2:c.1408C>T XP_005250946.1:p.Gln470Ter
XM_011516980.1:c.1729C>T XP_011515282.1:p.Gln577Ter
XM_011516981.1:c.1576C>T XP_011515283.1:p.Gln526Ter
XM_005250887.3:c.1465C>T XP_005250944.1:p.Gln489Ter
XM_005250888.3:c.1426C>T XP_005250945.1:p.Gln476Ter
XM_005250889.3:c.1408C>T XP_005250946.1:p.Gln470Ter
XM_011516980.2:c.2011C>T XP_011515282.2:p.Gln671Ter
XM_011516981.2:c.1576C>T XP_011515283.1:p.Gln526Ter
XM_024447131.1:c.1408C>T XP_024302899.1:p.Gln470Ter
NM_198488.4:c.1408C>T NP_940890.3:p.Gln470Ter
NM_198488.5:c.1408C>T MANE Select NP_940890.4:p.Gln470Ter