Canonical Allele Identifier: CA513365725
Gene: ARVCF HGNC NCBI

Linked Data

dbSNP Id: rs2146231510
MyVariant Identifiers: chr22:g.19959924T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19972401T>C , CM000684.2:g.19972401T>C GRCh38
NC_000022.10:g.19959924T>C , CM000684.1:g.19959924T>C GRCh37
NC_000022.9:g.18339924T>C NCBI36
NG_023326.1:g.49386A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263207.8:c.2652A>G MANE Select ENSP00000263207.3:p.Lys884=
ENST00000263207.7:c.2652A>G ENSP00000263207.3:p.Lys884=
ENST00000401994.5:c.2463A>G ENSP00000384341.1:p.Lys821=
ENST00000406259.1:c.2634A>G ENSP00000385444.1:p.Lys878=
ENST00000406522.5:c.2445A>G ENSP00000384732.1:p.Lys815=
ENST00000495096.5:n.1574A>G
NM_001670.2:c.2652A>G NP_001661.1:p.Lys884=
XM_005261242.1:c.2634A>G XP_005261299.1:p.Lys878=
XM_005261243.3:c.2634A>G XP_005261300.1:p.Lys878=
XM_005261244.3:c.2634A>G XP_005261301.1:p.Lys878=
XM_006724243.1:c.2652A>G XP_006724306.1:p.Lys884=
XM_006724245.2:c.2652A>G XP_006724308.1:p.Lys884=
XM_006724246.2:c.2406A>G XP_006724309.1:p.Lys802=
XM_006724247.2:c.2463A>G XP_006724310.1:p.Lys821=
XM_006724248.2:c.2445A>G XP_006724311.1:p.Lys815=
XM_011530179.1:c.2619A>G XP_011528481.1:p.Lys873=
XM_011530180.1:c.2652A>G XP_011528482.1:p.Lys884=
XM_011530182.1:c.1218A>G XP_011528484.1:p.Lys406=
XM_011530183.1:c.1200A>G XP_011528485.1:p.Lys400=
XR_937863.1:n.2739A>G
XR_937864.1:n.2739A>G
XM_005261242.3:c.2634A>G XP_005261299.1:p.Lys878=
XM_005261243.4:c.2634A>G XP_005261300.1:p.Lys878=
XM_005261244.4:c.2634A>G XP_005261301.1:p.Lys878=
XM_006724243.3:c.2652A>G XP_006724306.1:p.Lys884=
XM_006724245.3:c.2652A>G XP_006724308.1:p.Lys884=
XM_006724246.4:c.2406A>G XP_006724309.1:p.Lys802=
XM_006724247.4:c.2463A>G XP_006724310.1:p.Lys821=
XM_006724248.4:c.2445A>G XP_006724311.1:p.Lys815=
XM_011530179.3:c.2619A>G XP_011528481.1:p.Lys873=
XM_011530182.3:c.1218A>G XP_011528484.1:p.Lys406=
XM_011530183.3:c.1200A>G XP_011528485.1:p.Lys400=
XM_024452249.1:c.2406A>G XP_024308017.1:p.Lys802=
XR_937863.2:n.2739A>G
NM_001670.3:c.2652A>G MANE Select NP_001661.1:p.Lys884=