Canonical Allele Identifier: CA410694832

Gene: ARVCF

Linked Data

• dbSNP Id: rs1569147380
• gnomAD v2: 22-19960531-A-C
• gnomAD v4: 22-19973008-A-C
• MyVariant Identifiers: chr22:g.19960531A>C (hg19) ; chr22:g.19960531_19960534delinsCCGC (hg19) ; chr22:g.19973008A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19973008A>C , CM000684.2:g.19973008A>C	GRCh38
NC_000022.10:g.19960531A>C , CM000684.1:g.19960531A>C	GRCh37
NC_000022.9:g.18340531A>C	NCBI36
NG_023326.1:g.48779T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263207.8:c.2467T>G MANE Select	ENSP00000263207.3:p.Ser823Ala
ENST00000263207.7:c.2467T>G	ENSP00000263207.3:p.Ser823Ala
ENST00000401994.5:c.2278T>G	ENSP00000384341.1:p.Ser760Ala
ENST00000406259.1:c.2449T>G	ENSP00000385444.1:p.Ser817Ala
ENST00000406522.5:c.2260T>G	ENSP00000384732.1:p.Ser754Ala
ENST00000495096.5:n.1389T>G
NM_001670.2:c.2467T>G	NP_001661.1:p.Ser823Ala
XM_005261242.1:c.2449T>G	XP_005261299.1:p.Ser817Ala
XM_005261243.3:c.2449T>G	XP_005261300.1:p.Ser817Ala
XM_005261244.3:c.2449T>G	XP_005261301.1:p.Ser817Ala
XM_006724243.1:c.2467T>G	XP_006724306.1:p.Ser823Ala
XM_006724245.2:c.2467T>G	XP_006724308.1:p.Ser823Ala
XM_006724246.2:c.2221T>G	XP_006724309.1:p.Ser741Ala
XM_006724247.2:c.2278T>G	XP_006724310.1:p.Ser760Ala
XM_006724248.2:c.2260T>G	XP_006724311.1:p.Ser754Ala
XM_011530179.1:c.2434T>G	XP_011528481.1:p.Ser812Ala
XM_011530180.1:c.2467T>G	XP_011528482.1:p.Ser823Ala
XM_011530182.1:c.1033T>G	XP_011528484.1:p.Ser345Ala
XM_011530183.1:c.1015T>G	XP_011528485.1:p.Ser339Ala
XR_937863.1:n.2554T>G
XR_937864.1:n.2554T>G
XM_005261242.3:c.2449T>G	XP_005261299.1:p.Ser817Ala
XM_005261243.4:c.2449T>G	XP_005261300.1:p.Ser817Ala
XM_005261244.4:c.2449T>G	XP_005261301.1:p.Ser817Ala
XM_006724243.3:c.2467T>G	XP_006724306.1:p.Ser823Ala
XM_006724245.3:c.2467T>G	XP_006724308.1:p.Ser823Ala
XM_006724246.4:c.2221T>G	XP_006724309.1:p.Ser741Ala
XM_006724247.4:c.2278T>G	XP_006724310.1:p.Ser760Ala
XM_006724248.4:c.2260T>G	XP_006724311.1:p.Ser754Ala
XM_011530179.3:c.2434T>G	XP_011528481.1:p.Ser812Ala
XM_011530182.3:c.1033T>G	XP_011528484.1:p.Ser345Ala
XM_011530183.3:c.1015T>G	XP_011528485.1:p.Ser339Ala
XM_024452249.1:c.2221T>G	XP_024308017.1:p.Ser741Ala
XR_937863.2:n.2554T>G
NM_001670.3:c.2467T>G MANE Select	NP_001661.1:p.Ser823Ala