Canonical Allele Identifier: CA4917580

Gene: FAM83H

Linked Data

• dbSNP Id: rs781980675
• ExAC: 8:144810791 C / A
• gnomAD v2: 8-144810791-C-A
• gnomAD v4: 8-143728621-C-A
• MyVariant Identifiers: chr8:g.144810791C>A (hg19) ; chr8:g.143728621C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728621C>A , CM000670.2:g.143728621C>A	GRCh38
NC_000008.10:g.144810791C>A , CM000670.1:g.144810791C>A	GRCh37
NC_000008.9:g.144882779C>A	NCBI36
NG_016652.1:g.10124G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.840G>T MANE Select	ENSP00000373565.3:p.Gln280His
ENST00000650760.1:c.1443G>T	ENSP00000499217.1:p.Gln481His
ENST00000388913.3:c.840G>T	ENSP00000373565.3:p.Gln280His
ENST00000395103.2:c.20G>T
NM_198488.3:c.840G>T	NP_940890.3:p.Gln280His
XM_005250887.2:c.897G>T	XP_005250944.1:p.Gln299His
XM_005250888.2:c.858G>T	XP_005250945.1:p.Gln286His
XM_005250889.2:c.840G>T	XP_005250946.1:p.Gln280His
XM_011516980.1:c.1161G>T	XP_011515282.1:p.Gln387His
XM_011516981.1:c.1008G>T	XP_011515283.1:p.Gln336His
XM_005250887.3:c.897G>T	XP_005250944.1:p.Gln299His
XM_005250888.3:c.858G>T	XP_005250945.1:p.Gln286His
XM_005250889.3:c.840G>T	XP_005250946.1:p.Gln280His
XM_011516980.2:c.1443G>T	XP_011515282.2:p.Gln481His
XM_011516981.2:c.1008G>T	XP_011515283.1:p.Gln336His
XM_024447131.1:c.840G>T	XP_024302899.1:p.Gln280His
NM_198488.4:c.840G>T	NP_940890.3:p.Gln280His
NM_198488.5:c.840G>T MANE Select	NP_940890.4:p.Gln280His