Canonical Allele Identifier: CA2396130729
Gene: ARVCF HGNC NCBI

Linked Data

dbSNP Id: rs2518823

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19972665T>G , CM000684.2:g.19972665T>G GRCh38
NC_000022.10:g.19960188T>G , CM000684.1:g.19960188T>G GRCh37
NC_000022.9:g.18340188T>G NCBI36
NG_023326.1:g.49122A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000263207.8:c.2641+72A>C MANE Select ENSP00000263207.3:n.2641+72A>C
ENST00000263207.7:c.2641+72A>C ENSP00000263207.3:n.2641+72A>C
ENST00000401994.5:c.2452+72A>C ENSP00000384341.1:n.2452+72A>C
ENST00000406259.1:c.2623+72A>C ENSP00000385444.1:n.2623+72A>C
ENST00000406522.5:c.2434+72A>C ENSP00000384732.1:n.2434+72A>C
ENST00000495096.5:n.1563+72A>C
NM_001670.2:c.2641+72A>C NP_001661.1:n.2641+72A>C
XM_005261242.1:c.2623+72A>C XP_005261299.1:n.2623+72A>C
XM_005261243.3:c.2623+72A>C XP_005261300.1:n.2623+72A>C
XM_005261244.3:c.2623+72A>C XP_005261301.1:n.2623+72A>C
XM_006724243.1:c.2641+72A>C XP_006724306.1:n.2641+72A>C
XM_006724245.2:c.2641+72A>C XP_006724308.1:n.2641+72A>C
XM_006724246.2:c.2395+72A>C XP_006724309.1:n.2395+72A>C
XM_006724247.2:c.2452+72A>C XP_006724310.1:n.2452+72A>C
XM_006724248.2:c.2434+72A>C XP_006724311.1:n.2434+72A>C
XM_011530179.1:c.2608+72A>C XP_011528481.1:n.2608+72A>C
XM_011530180.1:c.2641+72A>C XP_011528482.1:n.2641+72A>C
XM_011530182.1:c.1207+72A>C XP_011528484.1:n.1207+72A>C
XM_011530183.1:c.1189+72A>C XP_011528485.1:n.1189+72A>C
XR_937863.1:n.2728+72A>C
XR_937864.1:n.2728+72A>C
XM_005261242.3:c.2623+72A>C XP_005261299.1:n.2623+72A>C
XM_005261243.4:c.2623+72A>C XP_005261300.1:n.2623+72A>C
XM_005261244.4:c.2623+72A>C XP_005261301.1:n.2623+72A>C
XM_006724243.3:c.2641+72A>C XP_006724306.1:n.2641+72A>C
XM_006724245.3:c.2641+72A>C XP_006724308.1:n.2641+72A>C
XM_006724246.4:c.2395+72A>C XP_006724309.1:n.2395+72A>C
XM_006724247.4:c.2452+72A>C XP_006724310.1:n.2452+72A>C
XM_006724248.4:c.2434+72A>C XP_006724311.1:n.2434+72A>C
XM_011530179.3:c.2608+72A>C XP_011528481.1:n.2608+72A>C
XM_011530182.3:c.1207+72A>C XP_011528484.1:n.1207+72A>C
XM_011530183.3:c.1189+72A>C XP_011528485.1:n.1189+72A>C
XM_024452249.1:c.2395+72A>C XP_024308017.1:n.2395+72A>C
XR_937863.2:n.2728+72A>C
NM_001670.3:c.2641+72A>C MANE Select NP_001661.1:n.2641+72A>C