Canonical Allele Identifier: CA372468780
Gene: FAM83H HGNC NCBI

Linked Data

ClinVar Variation Id: 2218624
ClinVar RCV Id: RCV002687341
dbSNP Id: rs1374169080

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143728422C>G , CM000670.2:g.143728422C>G GRCh38
NC_000008.10:g.144810592C>G , CM000670.1:g.144810592C>G GRCh37
NC_000008.9:g.144882580C>G NCBI36
NG_016652.1:g.10323G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000388913.4:c.1039G>C MANE Select ENSP00000373565.3:p.Asp347His
ENST00000650760.1:c.1642G>C ENSP00000499217.1:p.Asp548His
ENST00000388913.3:c.1039G>C ENSP00000373565.3:p.Asp347His
ENST00000395103.2:c.219G>C
NM_198488.3:c.1039G>C NP_940890.3:p.Asp347His
XM_005250887.2:c.1096G>C XP_005250944.1:p.Asp366His
XM_005250888.2:c.1057G>C XP_005250945.1:p.Asp353His
XM_005250889.2:c.1039G>C XP_005250946.1:p.Asp347His
XM_011516980.1:c.1360G>C XP_011515282.1:p.Asp454His
XM_011516981.1:c.1207G>C XP_011515283.1:p.Asp403His
XM_005250887.3:c.1096G>C XP_005250944.1:p.Asp366His
XM_005250888.3:c.1057G>C XP_005250945.1:p.Asp353His
XM_005250889.3:c.1039G>C XP_005250946.1:p.Asp347His
XM_011516980.2:c.1642G>C XP_011515282.2:p.Asp548His
XM_011516981.2:c.1207G>C XP_011515283.1:p.Asp403His
XM_024447131.1:c.1039G>C XP_024302899.1:p.Asp347His
NM_198488.4:c.1039G>C NP_940890.3:p.Asp347His
NM_198488.5:c.1039G>C MANE Select NP_940890.4:p.Asp347His