Canonical Allele Identifier: CA10105092

Gene: ARVCF

Linked Data

• ClinVar Variation Id: 720941
• ClinVar RCV Id: RCV000894348
• dbSNP Id: rs115344498
• ExAC: 22:19960512 A / G
• gnomAD v2: 22-19960512-A-G
• gnomAD v3: 22-19972989-A-G
• gnomAD v4: 22-19972989-A-G
• MyVariant Identifiers: chr22:g.19960512A>G (hg19) ; chr22:g.19960512_19960514delinsGCT (hg19) ; chr22:g.19972989A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19972989A>G , CM000684.2:g.19972989A>G	GRCh38
NC_000022.10:g.19960512A>G , CM000684.1:g.19960512A>G	GRCh37
NC_000022.9:g.18340512A>G	NCBI36
NG_023326.1:g.48798T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263207.8:c.2486T>C MANE Select	ENSP00000263207.3:p.Val829Ala
ENST00000263207.7:c.2486T>C	ENSP00000263207.3:p.Val829Ala
ENST00000401994.5:c.2297T>C	ENSP00000384341.1:p.Val766Ala
ENST00000406259.1:c.2468T>C	ENSP00000385444.1:p.Val823Ala
ENST00000406522.5:c.2279T>C	ENSP00000384732.1:p.Val760Ala
ENST00000495096.5:n.1408T>C
NM_001670.2:c.2486T>C	NP_001661.1:p.Val829Ala
XM_005261242.1:c.2468T>C	XP_005261299.1:p.Val823Ala
XM_005261243.3:c.2468T>C	XP_005261300.1:p.Val823Ala
XM_005261244.3:c.2468T>C	XP_005261301.1:p.Val823Ala
XM_006724243.1:c.2486T>C	XP_006724306.1:p.Val829Ala
XM_006724245.2:c.2486T>C	XP_006724308.1:p.Val829Ala
XM_006724246.2:c.2240T>C	XP_006724309.1:p.Val747Ala
XM_006724247.2:c.2297T>C	XP_006724310.1:p.Val766Ala
XM_006724248.2:c.2279T>C	XP_006724311.1:p.Val760Ala
XM_011530179.1:c.2453T>C	XP_011528481.1:p.Val818Ala
XM_011530180.1:c.2486T>C	XP_011528482.1:p.Val829Ala
XM_011530182.1:c.1052T>C	XP_011528484.1:p.Val351Ala
XM_011530183.1:c.1034T>C	XP_011528485.1:p.Val345Ala
XR_937863.1:n.2573T>C
XR_937864.1:n.2573T>C
XM_005261242.3:c.2468T>C	XP_005261299.1:p.Val823Ala
XM_005261243.4:c.2468T>C	XP_005261300.1:p.Val823Ala
XM_005261244.4:c.2468T>C	XP_005261301.1:p.Val823Ala
XM_006724243.3:c.2486T>C	XP_006724306.1:p.Val829Ala
XM_006724245.3:c.2486T>C	XP_006724308.1:p.Val829Ala
XM_006724246.4:c.2240T>C	XP_006724309.1:p.Val747Ala
XM_006724247.4:c.2297T>C	XP_006724310.1:p.Val766Ala
XM_006724248.4:c.2279T>C	XP_006724311.1:p.Val760Ala
XM_011530179.3:c.2453T>C	XP_011528481.1:p.Val818Ala
XM_011530182.3:c.1052T>C	XP_011528484.1:p.Val351Ala
XM_011530183.3:c.1034T>C	XP_011528485.1:p.Val345Ala
XM_024452249.1:c.2240T>C	XP_024308017.1:p.Val747Ala
XR_937863.2:n.2573T>C
NM_001670.3:c.2486T>C MANE Select	NP_001661.1:p.Val829Ala