Canonical Allele Identifier: CA410694690

Gene: ARVCF

Linked Data

• dbSNP Id: rs1267351455
• MyVariant Identifiers: chr22:g.19960497T>C (hg19) ; chr22:g.19972974T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19972974T>C , CM000684.2:g.19972974T>C	GRCh38
NC_000022.10:g.19960497T>C , CM000684.1:g.19960497T>C	GRCh37
NC_000022.9:g.18340497T>C	NCBI36
NG_023326.1:g.48813A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263207.8:c.2501A>G MANE Select	ENSP00000263207.3:p.Glu834Gly
ENST00000263207.7:c.2501A>G	ENSP00000263207.3:p.Glu834Gly
ENST00000401994.5:c.2312A>G	ENSP00000384341.1:p.Glu771Gly
ENST00000406259.1:c.2483A>G	ENSP00000385444.1:p.Glu828Gly
ENST00000406522.5:c.2294A>G	ENSP00000384732.1:p.Glu765Gly
ENST00000495096.5:n.1423A>G
NM_001670.2:c.2501A>G	NP_001661.1:p.Glu834Gly
XM_005261242.1:c.2483A>G	XP_005261299.1:p.Glu828Gly
XM_005261243.3:c.2483A>G	XP_005261300.1:p.Glu828Gly
XM_005261244.3:c.2483A>G	XP_005261301.1:p.Glu828Gly
XM_006724243.1:c.2501A>G	XP_006724306.1:p.Glu834Gly
XM_006724245.2:c.2501A>G	XP_006724308.1:p.Glu834Gly
XM_006724246.2:c.2255A>G	XP_006724309.1:p.Glu752Gly
XM_006724247.2:c.2312A>G	XP_006724310.1:p.Glu771Gly
XM_006724248.2:c.2294A>G	XP_006724311.1:p.Glu765Gly
XM_011530179.1:c.2468A>G	XP_011528481.1:p.Glu823Gly
XM_011530180.1:c.2501A>G	XP_011528482.1:p.Glu834Gly
XM_011530182.1:c.1067A>G	XP_011528484.1:p.Glu356Gly
XM_011530183.1:c.1049A>G	XP_011528485.1:p.Glu350Gly
XR_937863.1:n.2588A>G
XR_937864.1:n.2588A>G
XM_005261242.3:c.2483A>G	XP_005261299.1:p.Glu828Gly
XM_005261243.4:c.2483A>G	XP_005261300.1:p.Glu828Gly
XM_005261244.4:c.2483A>G	XP_005261301.1:p.Glu828Gly
XM_006724243.3:c.2501A>G	XP_006724306.1:p.Glu834Gly
XM_006724245.3:c.2501A>G	XP_006724308.1:p.Glu834Gly
XM_006724246.4:c.2255A>G	XP_006724309.1:p.Glu752Gly
XM_006724247.4:c.2312A>G	XP_006724310.1:p.Glu771Gly
XM_006724248.4:c.2294A>G	XP_006724311.1:p.Glu765Gly
XM_011530179.3:c.2468A>G	XP_011528481.1:p.Glu823Gly
XM_011530182.3:c.1067A>G	XP_011528484.1:p.Glu356Gly
XM_011530183.3:c.1049A>G	XP_011528485.1:p.Glu350Gly
XM_024452249.1:c.2255A>G	XP_024308017.1:p.Glu752Gly
XR_937863.2:n.2588A>G
NM_001670.3:c.2501A>G MANE Select	NP_001661.1:p.Glu834Gly