Canonical Allele Identifier: CA372469350

Gene: FAM83H

Linked Data

• dbSNP Id: rs1554623534
• gnomAD v2: 8-144810780-A-G
• gnomAD v4: 8-143728610-A-G
• MyVariant Identifiers: chr8:g.144810780A>G (hg19) ; chr8:g.143728610A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728610A>G , CM000670.2:g.143728610A>G	GRCh38
NC_000008.10:g.144810780A>G , CM000670.1:g.144810780A>G	GRCh37
NC_000008.9:g.144882768A>G	NCBI36
NG_016652.1:g.10135T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.851T>C MANE Select	ENSP00000373565.3:p.Leu284Pro
ENST00000650760.1:c.1454T>C	ENSP00000499217.1:p.Leu485Pro
ENST00000388913.3:c.851T>C	ENSP00000373565.3:p.Leu284Pro
ENST00000395103.2:c.31T>C
NM_198488.3:c.851T>C	NP_940890.3:p.Leu284Pro
XM_005250887.2:c.908T>C	XP_005250944.1:p.Leu303Pro
XM_005250888.2:c.869T>C	XP_005250945.1:p.Leu290Pro
XM_005250889.2:c.851T>C	XP_005250946.1:p.Leu284Pro
XM_011516980.1:c.1172T>C	XP_011515282.1:p.Leu391Pro
XM_011516981.1:c.1019T>C	XP_011515283.1:p.Leu340Pro
XM_005250887.3:c.908T>C	XP_005250944.1:p.Leu303Pro
XM_005250888.3:c.869T>C	XP_005250945.1:p.Leu290Pro
XM_005250889.3:c.851T>C	XP_005250946.1:p.Leu284Pro
XM_011516980.2:c.1454T>C	XP_011515282.2:p.Leu485Pro
XM_011516981.2:c.1019T>C	XP_011515283.1:p.Leu340Pro
XM_024447131.1:c.851T>C	XP_024302899.1:p.Leu284Pro
NM_198488.4:c.851T>C	NP_940890.3:p.Leu284Pro
NM_198488.5:c.851T>C MANE Select	NP_940890.4:p.Leu284Pro