Canonical Allele Identifier: CA513688547
Gene: ARVCF HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.19960273C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19972750C>G , CM000684.2:g.19972750C>G GRCh38
NC_000022.10:g.19960273C>G , CM000684.1:g.19960273C>G GRCh37
NC_000022.9:g.18340273C>G NCBI36
NG_023326.1:g.49037G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263207.8:c.2628G>C MANE Select ENSP00000263207.3:p.Val876=
ENST00000263207.7:c.2628G>C ENSP00000263207.3:p.Val876=
ENST00000401994.5:c.2439G>C ENSP00000384341.1:p.Val813=
ENST00000406259.1:c.2610G>C ENSP00000385444.1:p.Val870=
ENST00000406522.5:c.2421G>C ENSP00000384732.1:p.Val807=
ENST00000495096.5:n.1550G>C
NM_001670.2:c.2628G>C NP_001661.1:p.Val876=
XM_005261242.1:c.2610G>C XP_005261299.1:p.Val870=
XM_005261243.3:c.2610G>C XP_005261300.1:p.Val870=
XM_005261244.3:c.2610G>C XP_005261301.1:p.Val870=
XM_006724243.1:c.2628G>C XP_006724306.1:p.Val876=
XM_006724245.2:c.2628G>C XP_006724308.1:p.Val876=
XM_006724246.2:c.2382G>C XP_006724309.1:p.Val794=
XM_006724247.2:c.2439G>C XP_006724310.1:p.Val813=
XM_006724248.2:c.2421G>C XP_006724311.1:p.Val807=
XM_011530179.1:c.2595G>C XP_011528481.1:p.Val865=
XM_011530180.1:c.2628G>C XP_011528482.1:p.Val876=
XM_011530182.1:c.1194G>C XP_011528484.1:p.Val398=
XM_011530183.1:c.1176G>C XP_011528485.1:p.Val392=
XR_937863.1:n.2715G>C
XR_937864.1:n.2715G>C
XM_005261242.3:c.2610G>C XP_005261299.1:p.Val870=
XM_005261243.4:c.2610G>C XP_005261300.1:p.Val870=
XM_005261244.4:c.2610G>C XP_005261301.1:p.Val870=
XM_006724243.3:c.2628G>C XP_006724306.1:p.Val876=
XM_006724245.3:c.2628G>C XP_006724308.1:p.Val876=
XM_006724246.4:c.2382G>C XP_006724309.1:p.Val794=
XM_006724247.4:c.2439G>C XP_006724310.1:p.Val813=
XM_006724248.4:c.2421G>C XP_006724311.1:p.Val807=
XM_011530179.3:c.2595G>C XP_011528481.1:p.Val865=
XM_011530182.3:c.1194G>C XP_011528484.1:p.Val398=
XM_011530183.3:c.1176G>C XP_011528485.1:p.Val392=
XM_024452249.1:c.2382G>C XP_024308017.1:p.Val794=
XR_937863.2:n.2715G>C
NM_001670.3:c.2628G>C MANE Select NP_001661.1:p.Val876=