Canonical Allele Identifier: CA410701478
Gene: ARVCF HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19981583A>T , CM000684.2:g.19981583A>T GRCh38
NC_000022.10:g.19969106A>T , CM000684.1:g.19969106A>T GRCh37
NC_000022.9:g.18349106A>T NCBI36
NG_023326.1:g.40204T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263207.8:c.524T>A MANE Select ENSP00000263207.3:p.Val175Glu
ENST00000263207.7:c.524T>A ENSP00000263207.3:p.Val175Glu
ENST00000401994.5:c.335T>A ENSP00000384341.1:p.Val112Glu
ENST00000406259.1:c.524T>A ENSP00000385444.1:p.Val175Glu
ENST00000406522.5:c.335T>A ENSP00000384732.1:p.Val112Glu
ENST00000462319.1:n.395T>A
ENST00000473551.5:n.522T>A
ENST00000487793.5:n.432T>A
ENST00000492625.5:n.430T>A
NM_001670.2:c.524T>A NP_001661.1:p.Val175Glu
XM_005261242.1:c.524T>A XP_005261299.1:p.Val175Glu
XM_005261243.3:c.524T>A XP_005261300.1:p.Val175Glu
XM_005261244.3:c.524T>A XP_005261301.1:p.Val175Glu
XM_006724243.1:c.524T>A XP_006724306.1:p.Val175Glu
XM_006724245.2:c.524T>A XP_006724308.1:p.Val175Glu
XM_006724246.2:c.278T>A XP_006724309.1:p.Val93Glu
XM_006724247.2:c.335T>A XP_006724310.1:p.Val112Glu
XM_006724248.2:c.335T>A XP_006724311.1:p.Val112Glu
XM_006724249.2:c.524T>A XP_006724312.1:p.Val175Glu
XM_006724250.2:c.524T>A XP_006724313.1:p.Val175Glu
XM_011530179.1:c.524T>A XP_011528481.1:p.Val175Glu
XM_011530180.1:c.524T>A XP_011528482.1:p.Val175Glu
XM_011530181.1:c.524T>A XP_011528483.1:p.Val175Glu
XR_937863.1:n.810T>A
XR_937864.1:n.810T>A
XM_005261242.3:c.524T>A XP_005261299.1:p.Val175Glu
XM_005261243.4:c.524T>A XP_005261300.1:p.Val175Glu
XM_005261244.4:c.524T>A XP_005261301.1:p.Val175Glu
XM_006724243.3:c.524T>A XP_006724306.1:p.Val175Glu
XM_006724245.3:c.524T>A XP_006724308.1:p.Val175Glu
XM_006724246.4:c.278T>A XP_006724309.1:p.Val93Glu
XM_006724247.4:c.335T>A XP_006724310.1:p.Val112Glu
XM_006724248.4:c.335T>A XP_006724311.1:p.Val112Glu
XM_006724249.3:c.524T>A XP_006724312.1:p.Val175Glu
XM_006724250.3:c.524T>A XP_006724313.1:p.Val175Glu
XM_011530179.3:c.524T>A XP_011528481.1:p.Val175Glu
XM_024452249.1:c.278T>A XP_024308017.1:p.Val93Glu
XR_937863.2:n.810T>A
NM_001670.3:c.524T>A MANE Select NP_001661.1:p.Val175Glu