Canonical Allele Identifier: CA4917548

Gene: FAM83H

Linked Data

• dbSNP Id: rs782599442
• ExAC: 8:144810682 G / C
• gnomAD v2: 8-144810682-G-C
• gnomAD v3: 8-143728512-G-C
• gnomAD v4: 8-143728512-G-C
• MyVariant Identifiers: chr8:g.144810682G>C (hg19) ; chr8:g.143728512G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728512G>C , CM000670.2:g.143728512G>C	GRCh38
NC_000008.10:g.144810682G>C , CM000670.1:g.144810682G>C	GRCh37
NC_000008.9:g.144882670G>C	NCBI36
NG_016652.1:g.10233C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.949C>G MANE Select	ENSP00000373565.3:p.Pro317Ala
ENST00000650760.1:c.1552C>G	ENSP00000499217.1:p.Pro518Ala
ENST00000388913.3:c.949C>G	ENSP00000373565.3:p.Pro317Ala
ENST00000395103.2:c.129C>G
NM_198488.3:c.949C>G	NP_940890.3:p.Pro317Ala
XM_005250887.2:c.1006C>G	XP_005250944.1:p.Pro336Ala
XM_005250888.2:c.967C>G	XP_005250945.1:p.Pro323Ala
XM_005250889.2:c.949C>G	XP_005250946.1:p.Pro317Ala
XM_011516980.1:c.1270C>G	XP_011515282.1:p.Pro424Ala
XM_011516981.1:c.1117C>G	XP_011515283.1:p.Pro373Ala
XM_005250887.3:c.1006C>G	XP_005250944.1:p.Pro336Ala
XM_005250888.3:c.967C>G	XP_005250945.1:p.Pro323Ala
XM_005250889.3:c.949C>G	XP_005250946.1:p.Pro317Ala
XM_011516980.2:c.1552C>G	XP_011515282.2:p.Pro518Ala
XM_011516981.2:c.1117C>G	XP_011515283.1:p.Pro373Ala
XM_024447131.1:c.949C>G	XP_024302899.1:p.Pro317Ala
NM_198488.4:c.949C>G	NP_940890.3:p.Pro317Ala
NM_198488.5:c.949C>G MANE Select	NP_940890.4:p.Pro317Ala