Canonical Allele Identifier: CA2396129828
Gene: ARVCF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19971146G>T , CM000684.2:g.19971146G>T GRCh38
NC_000022.10:g.19958669G>T , CM000684.1:g.19958669G>T GRCh37
NC_000022.9:g.18338669G>T NCBI36
NG_011526.1:g.34407G>T
NG_023326.1:g.50641C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263207.8:c.*12+70C>A MANE Select ENSP00000263207.3:n.*12+70C>A
ENST00000263207.7:c.*12+70C>A ENSP00000263207.3:n.*12+70C>A
ENST00000495096.5:n.1704-403C>A
NM_001670.2:c.*12+70C>A NP_001661.1:n.*12+70C>A
XM_005261242.1:c.2763+740C>A XP_005261299.1:n.2763+740C>A
XM_005261243.3:c.*12+70C>A XP_005261300.1:n.*12+70C>A
XM_005261244.3:c.2764-403C>A XP_005261301.1:n.2764-403C>A
XM_006724243.1:c.2781+740C>A XP_006724306.1:n.2781+740C>A
XM_006724245.2:c.2782-403C>A XP_006724308.1:n.2782-403C>A
XM_006724246.2:c.2535+740C>A XP_006724309.1:n.2535+740C>A
XM_006724247.2:c.*12+70C>A XP_006724310.1:n.*12+70C>A
XM_006724248.2:c.*12+70C>A XP_006724311.1:n.*12+70C>A
XM_011530179.1:c.2748+740C>A XP_011528481.1:n.2748+740C>A
XM_011530180.1:c.*13-41C>A XP_011528482.1:n.*13-41C>A
XM_011530182.1:c.1347+740C>A XP_011528484.1:n.1347+740C>A
XM_011530183.1:c.1330-403C>A XP_011528485.1:n.1330-403C>A
XR_937863.1:n.2869-403C>A
XM_005261242.3:c.2763+740C>A XP_005261299.1:n.2763+740C>A
XM_005261243.4:c.*12+70C>A XP_005261300.1:n.*12+70C>A
XM_005261244.4:c.2764-403C>A XP_005261301.1:n.2764-403C>A
XM_006724243.3:c.2781+740C>A XP_006724306.1:n.2781+740C>A
XM_006724245.3:c.2782-403C>A XP_006724308.1:n.2782-403C>A
XM_006724246.4:c.2535+740C>A XP_006724309.1:n.2535+740C>A
XM_006724247.4:c.*12+70C>A XP_006724310.1:n.*12+70C>A
XM_006724248.4:c.*12+70C>A XP_006724311.1:n.*12+70C>A
XM_011530179.3:c.2748+740C>A XP_011528481.1:n.2748+740C>A
XM_011530182.3:c.1347+740C>A XP_011528484.1:n.1347+740C>A
XM_011530183.3:c.1330-403C>A XP_011528485.1:n.1330-403C>A
XM_024452249.1:c.2535+740C>A XP_024308017.1:n.2535+740C>A
XR_937863.2:n.2869-403C>A
NM_001670.3:c.*12+70C>A MANE Select NP_001661.1:n.*12+70C>A