Canonical Allele Identifier: CA372468788

Gene: FAM83H

Linked Data

• gnomAD v4: 8-143728425-G-C
• MyVariant Identifiers: chr8:g.144810595G>C (hg19) ; chr8:g.143728425G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728425G>C , CM000670.2:g.143728425G>C	GRCh38
NC_000008.10:g.144810595G>C , CM000670.1:g.144810595G>C	GRCh37
NC_000008.9:g.144882583G>C	NCBI36
NG_016652.1:g.10320C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.1036C>G MANE Select	ENSP00000373565.3:p.Pro346Ala
ENST00000650760.1:c.1639C>G	ENSP00000499217.1:p.Pro547Ala
ENST00000388913.3:c.1036C>G	ENSP00000373565.3:p.Pro346Ala
ENST00000395103.2:c.216C>G
NM_198488.3:c.1036C>G	NP_940890.3:p.Pro346Ala
XM_005250887.2:c.1093C>G	XP_005250944.1:p.Pro365Ala
XM_005250888.2:c.1054C>G	XP_005250945.1:p.Pro352Ala
XM_005250889.2:c.1036C>G	XP_005250946.1:p.Pro346Ala
XM_011516980.1:c.1357C>G	XP_011515282.1:p.Pro453Ala
XM_011516981.1:c.1204C>G	XP_011515283.1:p.Pro402Ala
XM_005250887.3:c.1093C>G	XP_005250944.1:p.Pro365Ala
XM_005250888.3:c.1054C>G	XP_005250945.1:p.Pro352Ala
XM_005250889.3:c.1036C>G	XP_005250946.1:p.Pro346Ala
XM_011516980.2:c.1639C>G	XP_011515282.2:p.Pro547Ala
XM_011516981.2:c.1204C>G	XP_011515283.1:p.Pro402Ala
XM_024447131.1:c.1036C>G	XP_024302899.1:p.Pro346Ala
NM_198488.4:c.1036C>G	NP_940890.3:p.Pro346Ala
NM_198488.5:c.1036C>G MANE Select	NP_940890.4:p.Pro346Ala