Canonical Allele Identifier: CA513689080

Gene: ARVCF

Linked Data

• dbSNP Id: rs1569147354
• gnomAD v3: 22-19973000-C-G
• gnomAD v4: 22-19973000-C-G
• MyVariant Identifiers: chr22:g.19960523C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19973000C>G , CM000684.2:g.19973000C>G	GRCh38
NC_000022.10:g.19960523C>G , CM000684.1:g.19960523C>G	GRCh37
NC_000022.9:g.18340523C>G	NCBI36
NG_023326.1:g.48787G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263207.8:c.2475G>C MANE Select	ENSP00000263207.3:p.Val825=
ENST00000263207.7:c.2475G>C	ENSP00000263207.3:p.Val825=
ENST00000401994.5:c.2286G>C	ENSP00000384341.1:p.Val762=
ENST00000406259.1:c.2457G>C	ENSP00000385444.1:p.Val819=
ENST00000406522.5:c.2268G>C	ENSP00000384732.1:p.Val756=
ENST00000495096.5:n.1397G>C
NM_001670.2:c.2475G>C	NP_001661.1:p.Val825=
XM_005261242.1:c.2457G>C	XP_005261299.1:p.Val819=
XM_005261243.3:c.2457G>C	XP_005261300.1:p.Val819=
XM_005261244.3:c.2457G>C	XP_005261301.1:p.Val819=
XM_006724243.1:c.2475G>C	XP_006724306.1:p.Val825=
XM_006724245.2:c.2475G>C	XP_006724308.1:p.Val825=
XM_006724246.2:c.2229G>C	XP_006724309.1:p.Val743=
XM_006724247.2:c.2286G>C	XP_006724310.1:p.Val762=
XM_006724248.2:c.2268G>C	XP_006724311.1:p.Val756=
XM_011530179.1:c.2442G>C	XP_011528481.1:p.Val814=
XM_011530180.1:c.2475G>C	XP_011528482.1:p.Val825=
XM_011530182.1:c.1041G>C	XP_011528484.1:p.Val347=
XM_011530183.1:c.1023G>C	XP_011528485.1:p.Val341=
XR_937863.1:n.2562G>C
XR_937864.1:n.2562G>C
XM_005261242.3:c.2457G>C	XP_005261299.1:p.Val819=
XM_005261243.4:c.2457G>C	XP_005261300.1:p.Val819=
XM_005261244.4:c.2457G>C	XP_005261301.1:p.Val819=
XM_006724243.3:c.2475G>C	XP_006724306.1:p.Val825=
XM_006724245.3:c.2475G>C	XP_006724308.1:p.Val825=
XM_006724246.4:c.2229G>C	XP_006724309.1:p.Val743=
XM_006724247.4:c.2286G>C	XP_006724310.1:p.Val762=
XM_006724248.4:c.2268G>C	XP_006724311.1:p.Val756=
XM_011530179.3:c.2442G>C	XP_011528481.1:p.Val814=
XM_011530182.3:c.1041G>C	XP_011528484.1:p.Val347=
XM_011530183.3:c.1023G>C	XP_011528485.1:p.Val341=
XM_024452249.1:c.2229G>C	XP_024308017.1:p.Val743=
XR_937863.2:n.2562G>C
NM_001670.3:c.2475G>C MANE Select	NP_001661.1:p.Val825=