Canonical Allele Identifier: CA372469055

Gene: FAM83H

Linked Data

• MyVariant Identifiers: chr8:g.144810700C>G (hg19) ; chr8:g.143728530C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728530C>G , CM000670.2:g.143728530C>G	GRCh38
NC_000008.10:g.144810700C>G , CM000670.1:g.144810700C>G	GRCh37
NC_000008.9:g.144882688C>G	NCBI36
NG_016652.1:g.10215G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.931G>C MANE Select	ENSP00000373565.3:p.Val311Leu
ENST00000650760.1:c.1534G>C	ENSP00000499217.1:p.Val512Leu
ENST00000388913.3:c.931G>C	ENSP00000373565.3:p.Val311Leu
ENST00000395103.2:c.111G>C
NM_198488.3:c.931G>C	NP_940890.3:p.Val311Leu
XM_005250887.2:c.988G>C	XP_005250944.1:p.Val330Leu
XM_005250888.2:c.949G>C	XP_005250945.1:p.Val317Leu
XM_005250889.2:c.931G>C	XP_005250946.1:p.Val311Leu
XM_011516980.1:c.1252G>C	XP_011515282.1:p.Val418Leu
XM_011516981.1:c.1099G>C	XP_011515283.1:p.Val367Leu
XM_005250887.3:c.988G>C	XP_005250944.1:p.Val330Leu
XM_005250888.3:c.949G>C	XP_005250945.1:p.Val317Leu
XM_005250889.3:c.931G>C	XP_005250946.1:p.Val311Leu
XM_011516980.2:c.1534G>C	XP_011515282.2:p.Val512Leu
XM_011516981.2:c.1099G>C	XP_011515283.1:p.Val367Leu
XM_024447131.1:c.931G>C	XP_024302899.1:p.Val311Leu
NM_198488.4:c.931G>C	NP_940890.3:p.Val311Leu
NM_198488.5:c.931G>C MANE Select	NP_940890.4:p.Val311Leu