Canonical Allele Identifier: CA410693378
Gene: ARVCF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19972381A>T , CM000684.2:g.19972381A>T GRCh38
NC_000022.10:g.19959904A>T , CM000684.1:g.19959904A>T GRCh37
NC_000022.9:g.18339904A>T NCBI36
NG_023326.1:g.49406T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263207.8:c.2672T>A MANE Select ENSP00000263207.3:p.Ile891Asn
ENST00000263207.7:c.2672T>A ENSP00000263207.3:p.Ile891Asn
ENST00000401994.5:c.2483T>A ENSP00000384341.1:p.Ile828Asn
ENST00000406259.1:c.2654T>A ENSP00000385444.1:p.Ile885Asn
ENST00000406522.5:c.2465T>A ENSP00000384732.1:p.Ile822Asn
ENST00000495096.5:n.1594T>A
NM_001670.2:c.2672T>A NP_001661.1:p.Ile891Asn
XM_005261242.1:c.2654T>A XP_005261299.1:p.Ile885Asn
XM_005261243.3:c.2654T>A XP_005261300.1:p.Ile885Asn
XM_005261244.3:c.2654T>A XP_005261301.1:p.Ile885Asn
XM_006724243.1:c.2672T>A XP_006724306.1:p.Ile891Asn
XM_006724245.2:c.2672T>A XP_006724308.1:p.Ile891Asn
XM_006724246.2:c.2426T>A XP_006724309.1:p.Ile809Asn
XM_006724247.2:c.2483T>A XP_006724310.1:p.Ile828Asn
XM_006724248.2:c.2465T>A XP_006724311.1:p.Ile822Asn
XM_011530179.1:c.2639T>A XP_011528481.1:p.Ile880Asn
XM_011530180.1:c.2672T>A XP_011528482.1:p.Ile891Asn
XM_011530182.1:c.1238T>A XP_011528484.1:p.Ile413Asn
XM_011530183.1:c.1220T>A XP_011528485.1:p.Ile407Asn
XR_937863.1:n.2759T>A
XR_937864.1:n.2759T>A
XM_005261242.3:c.2654T>A XP_005261299.1:p.Ile885Asn
XM_005261243.4:c.2654T>A XP_005261300.1:p.Ile885Asn
XM_005261244.4:c.2654T>A XP_005261301.1:p.Ile885Asn
XM_006724243.3:c.2672T>A XP_006724306.1:p.Ile891Asn
XM_006724245.3:c.2672T>A XP_006724308.1:p.Ile891Asn
XM_006724246.4:c.2426T>A XP_006724309.1:p.Ile809Asn
XM_006724247.4:c.2483T>A XP_006724310.1:p.Ile828Asn
XM_006724248.4:c.2465T>A XP_006724311.1:p.Ile822Asn
XM_011530179.3:c.2639T>A XP_011528481.1:p.Ile880Asn
XM_011530182.3:c.1238T>A XP_011528484.1:p.Ile413Asn
XM_011530183.3:c.1220T>A XP_011528485.1:p.Ile407Asn
XM_024452249.1:c.2426T>A XP_024308017.1:p.Ile809Asn
XR_937863.2:n.2759T>A
NM_001670.3:c.2672T>A MANE Select NP_001661.1:p.Ile891Asn