Canonical Allele Identifier: CA372468431

Gene: FAM83H

Linked Data

• dbSNP Id: rs1818386501
• gnomAD v4: 8-143728322-A-G
• MyVariant Identifiers: chr8:g.144810492A>G (hg19) ; chr8:g.143728322A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728322A>G , CM000670.2:g.143728322A>G	GRCh38
NC_000008.10:g.144810492A>G , CM000670.1:g.144810492A>G	GRCh37
NC_000008.9:g.144882480A>G	NCBI36
NG_016652.1:g.10423T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.1139T>C MANE Select	ENSP00000373565.3:p.Leu380Pro
ENST00000650760.1:c.1742T>C	ENSP00000499217.1:p.Leu581Pro
ENST00000388913.3:c.1139T>C	ENSP00000373565.3:p.Leu380Pro
ENST00000395103.2:c.319T>C
NM_198488.3:c.1139T>C	NP_940890.3:p.Leu380Pro
XM_005250887.2:c.1196T>C	XP_005250944.1:p.Leu399Pro
XM_005250888.2:c.1157T>C	XP_005250945.1:p.Leu386Pro
XM_005250889.2:c.1139T>C	XP_005250946.1:p.Leu380Pro
XM_011516980.1:c.1460T>C	XP_011515282.1:p.Leu487Pro
XM_011516981.1:c.1307T>C	XP_011515283.1:p.Leu436Pro
XM_005250887.3:c.1196T>C	XP_005250944.1:p.Leu399Pro
XM_005250888.3:c.1157T>C	XP_005250945.1:p.Leu386Pro
XM_005250889.3:c.1139T>C	XP_005250946.1:p.Leu380Pro
XM_011516980.2:c.1742T>C	XP_011515282.2:p.Leu581Pro
XM_011516981.2:c.1307T>C	XP_011515283.1:p.Leu436Pro
XM_024447131.1:c.1139T>C	XP_024302899.1:p.Leu380Pro
NM_198488.4:c.1139T>C	NP_940890.3:p.Leu380Pro
NM_198488.5:c.1139T>C MANE Select	NP_940890.4:p.Leu380Pro