Canonical Allele Identifier: CA4917584

Gene: FAM83H

Linked Data

• dbSNP Id: rs782050818
• ExAC: 8:144810800 G / A
• gnomAD v2: 8-144810800-G-A
• MyVariant Identifiers: chr8:g.144810800G>A (hg19) ; chr8:g.143728630G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728630G>A , CM000670.2:g.143728630G>A	GRCh38
NC_000008.10:g.144810800G>A , CM000670.1:g.144810800G>A	GRCh37
NC_000008.9:g.144882788G>A	NCBI36
NG_016652.1:g.10115C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.831C>T MANE Select	ENSP00000373565.3:p.Leu277=
ENST00000650760.1:c.1434C>T	ENSP00000499217.1:p.Leu478=
ENST00000388913.3:c.831C>T	ENSP00000373565.3:p.Leu277=
ENST00000395103.2:c.11C>T
NM_198488.3:c.831C>T	NP_940890.3:p.Leu277=
XM_005250887.2:c.888C>T	XP_005250944.1:p.Leu296=
XM_005250888.2:c.849C>T	XP_005250945.1:p.Leu283=
XM_005250889.2:c.831C>T	XP_005250946.1:p.Leu277=
XM_011516980.1:c.1152C>T	XP_011515282.1:p.Leu384=
XM_011516981.1:c.999C>T	XP_011515283.1:p.Leu333=
XM_005250887.3:c.888C>T	XP_005250944.1:p.Leu296=
XM_005250888.3:c.849C>T	XP_005250945.1:p.Leu283=
XM_005250889.3:c.831C>T	XP_005250946.1:p.Leu277=
XM_011516980.2:c.1434C>T	XP_011515282.2:p.Leu478=
XM_011516981.2:c.999C>T	XP_011515283.1:p.Leu333=
XM_024447131.1:c.831C>T	XP_024302899.1:p.Leu277=
NM_198488.4:c.831C>T	NP_940890.3:p.Leu277=
NM_198488.5:c.831C>T MANE Select	NP_940890.4:p.Leu277=