Canonical Allele Identifier: CA463519731

Gene: FAM83H

Linked Data

• gnomAD v4: 8-143728477-G-A
• MyVariant Identifiers: chr8:g.144810647G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728477G>A , CM000670.2:g.143728477G>A	GRCh38
NC_000008.10:g.144810647G>A , CM000670.1:g.144810647G>A	GRCh37
NC_000008.9:g.144882635G>A	NCBI36
NG_016652.1:g.10268C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.984C>T MANE Select	ENSP00000373565.3:p.Leu328=
ENST00000650760.1:c.1587C>T	ENSP00000499217.1:p.Leu529=
ENST00000388913.3:c.984C>T	ENSP00000373565.3:p.Leu328=
ENST00000395103.2:c.164C>T
NM_198488.3:c.984C>T	NP_940890.3:p.Leu328=
XM_005250887.2:c.1041C>T	XP_005250944.1:p.Leu347=
XM_005250888.2:c.1002C>T	XP_005250945.1:p.Leu334=
XM_005250889.2:c.984C>T	XP_005250946.1:p.Leu328=
XM_011516980.1:c.1305C>T	XP_011515282.1:p.Leu435=
XM_011516981.1:c.1152C>T	XP_011515283.1:p.Leu384=
XM_005250887.3:c.1041C>T	XP_005250944.1:p.Leu347=
XM_005250888.3:c.1002C>T	XP_005250945.1:p.Leu334=
XM_005250889.3:c.984C>T	XP_005250946.1:p.Leu328=
XM_011516980.2:c.1587C>T	XP_011515282.2:p.Leu529=
XM_011516981.2:c.1152C>T	XP_011515283.1:p.Leu384=
XM_024447131.1:c.984C>T	XP_024302899.1:p.Leu328=
NM_198488.4:c.984C>T	NP_940890.3:p.Leu328=
NM_198488.5:c.984C>T MANE Select	NP_940890.4:p.Leu328=