Canonical Allele Identifier: CA463519644

Gene: FAM83H

Linked Data

• gnomAD v4: 8-143728405-C-G
• MyVariant Identifiers: chr8:g.144810575C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728405C>G , CM000670.2:g.143728405C>G	GRCh38
NC_000008.10:g.144810575C>G , CM000670.1:g.144810575C>G	GRCh37
NC_000008.9:g.144882563C>G	NCBI36
NG_016652.1:g.10340G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.1056G>C MANE Select	ENSP00000373565.3:p.Ser352=
ENST00000650760.1:c.1659G>C	ENSP00000499217.1:p.Ser553=
ENST00000388913.3:c.1056G>C	ENSP00000373565.3:p.Ser352=
ENST00000395103.2:c.236G>C
NM_198488.3:c.1056G>C	NP_940890.3:p.Ser352=
XM_005250887.2:c.1113G>C	XP_005250944.1:p.Ser371=
XM_005250888.2:c.1074G>C	XP_005250945.1:p.Ser358=
XM_005250889.2:c.1056G>C	XP_005250946.1:p.Ser352=
XM_011516980.1:c.1377G>C	XP_011515282.1:p.Ser459=
XM_011516981.1:c.1224G>C	XP_011515283.1:p.Ser408=
XM_005250887.3:c.1113G>C	XP_005250944.1:p.Ser371=
XM_005250888.3:c.1074G>C	XP_005250945.1:p.Ser358=
XM_005250889.3:c.1056G>C	XP_005250946.1:p.Ser352=
XM_011516980.2:c.1659G>C	XP_011515282.2:p.Ser553=
XM_011516981.2:c.1224G>C	XP_011515283.1:p.Ser408=
XM_024447131.1:c.1056G>C	XP_024302899.1:p.Ser352=
NM_198488.4:c.1056G>C	NP_940890.3:p.Ser352=
NM_198488.5:c.1056G>C MANE Select	NP_940890.4:p.Ser352=