Canonical Allele Identifier: CA372468771

Gene: FAM83H

Linked Data

• gnomAD v4: 8-143728420-G-C
• MyVariant Identifiers: chr8:g.144810590G>C (hg19) ; chr8:g.143728420G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728420G>C , CM000670.2:g.143728420G>C	GRCh38
NC_000008.10:g.144810590G>C , CM000670.1:g.144810590G>C	GRCh37
NC_000008.9:g.144882578G>C	NCBI36
NG_016652.1:g.10325C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.1041C>G MANE Select	ENSP00000373565.3:p.Asp347Glu
ENST00000650760.1:c.1644C>G	ENSP00000499217.1:p.Asp548Glu
ENST00000388913.3:c.1041C>G	ENSP00000373565.3:p.Asp347Glu
ENST00000395103.2:c.221C>G
NM_198488.3:c.1041C>G	NP_940890.3:p.Asp347Glu
XM_005250887.2:c.1098C>G	XP_005250944.1:p.Asp366Glu
XM_005250888.2:c.1059C>G	XP_005250945.1:p.Asp353Glu
XM_005250889.2:c.1041C>G	XP_005250946.1:p.Asp347Glu
XM_011516980.1:c.1362C>G	XP_011515282.1:p.Asp454Glu
XM_011516981.1:c.1209C>G	XP_011515283.1:p.Asp403Glu
XM_005250887.3:c.1098C>G	XP_005250944.1:p.Asp366Glu
XM_005250888.3:c.1059C>G	XP_005250945.1:p.Asp353Glu
XM_005250889.3:c.1041C>G	XP_005250946.1:p.Asp347Glu
XM_011516980.2:c.1644C>G	XP_011515282.2:p.Asp548Glu
XM_011516981.2:c.1209C>G	XP_011515283.1:p.Asp403Glu
XM_024447131.1:c.1041C>G	XP_024302899.1:p.Asp347Glu
NM_198488.4:c.1041C>G	NP_940890.3:p.Asp347Glu
NM_198488.5:c.1041C>G MANE Select	NP_940890.4:p.Asp347Glu