Canonical Allele Identifier: CA10105834
Gene: ARVCF HGNC NCBI

Linked Data

ClinVar Variation Id: 1288334
ClinVar RCV Id: RCV001707309
dbSNP Id: rs2073748

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19981448G>A , CM000684.2:g.19981448G>A GRCh38
NC_000022.10:g.19968971G>A , CM000684.1:g.19968971G>A GRCh37
NC_000022.9:g.18348971G>A NCBI36
NG_023326.1:g.40339C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000263207.8:c.659C>T MANE Select ENSP00000263207.3:p.Pro220Leu
ENST00000263207.7:c.659C>T ENSP00000263207.3:p.Pro220Leu
ENST00000401994.5:c.470C>T ENSP00000384341.1:p.Pro157Leu
ENST00000406259.1:c.659C>T ENSP00000385444.1:p.Pro220Leu
ENST00000406522.5:c.470C>T ENSP00000384732.1:p.Pro157Leu
ENST00000473551.5:n.657C>T
ENST00000487793.5:n.567C>T
ENST00000492625.5:n.565C>T
NM_001670.2:c.659C>T NP_001661.1:p.Pro220Leu
XM_005261242.1:c.659C>T XP_005261299.1:p.Pro220Leu
XM_005261243.3:c.659C>T XP_005261300.1:p.Pro220Leu
XM_005261244.3:c.659C>T XP_005261301.1:p.Pro220Leu
XM_006724243.1:c.659C>T XP_006724306.1:p.Pro220Leu
XM_006724245.2:c.659C>T XP_006724308.1:p.Pro220Leu
XM_006724246.2:c.413C>T XP_006724309.1:p.Pro138Leu
XM_006724247.2:c.470C>T XP_006724310.1:p.Pro157Leu
XM_006724248.2:c.470C>T XP_006724311.1:p.Pro157Leu
XM_006724249.2:c.659C>T XP_006724312.1:p.Pro220Leu
XM_006724250.2:c.659C>T XP_006724313.1:p.Pro220Leu
XM_011530179.1:c.659C>T XP_011528481.1:p.Pro220Leu
XM_011530180.1:c.659C>T XP_011528482.1:p.Pro220Leu
XM_011530181.1:c.659C>T XP_011528483.1:p.Pro220Leu
XR_937863.1:n.945C>T
XR_937864.1:n.945C>T
XM_005261242.3:c.659C>T XP_005261299.1:p.Pro220Leu
XM_005261243.4:c.659C>T XP_005261300.1:p.Pro220Leu
XM_005261244.4:c.659C>T XP_005261301.1:p.Pro220Leu
XM_006724243.3:c.659C>T XP_006724306.1:p.Pro220Leu
XM_006724245.3:c.659C>T XP_006724308.1:p.Pro220Leu
XM_006724246.4:c.413C>T XP_006724309.1:p.Pro138Leu
XM_006724247.4:c.470C>T XP_006724310.1:p.Pro157Leu
XM_006724248.4:c.470C>T XP_006724311.1:p.Pro157Leu
XM_006724249.3:c.659C>T XP_006724312.1:p.Pro220Leu
XM_006724250.3:c.659C>T XP_006724313.1:p.Pro220Leu
XM_011530179.3:c.659C>T XP_011528481.1:p.Pro220Leu
XM_024452249.1:c.413C>T XP_024308017.1:p.Pro138Leu
XR_937863.2:n.945C>T
NM_001670.3:c.659C>T MANE Select NP_001661.1:p.Pro220Leu