Canonical Allele Identifier: CA10105088

Gene: ARVCF

Linked Data

• dbSNP Id: rs150038979
• ExAC: 22:19960503 T / C
• gnomAD v2: 22-19960503-T-C
• gnomAD v3: 22-19972980-T-C
• gnomAD v4: 22-19972980-T-C
• MyVariant Identifiers: chr22:g.19960503T>C (hg19) ; chr22:g.19972980T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19972980T>C , CM000684.2:g.19972980T>C	GRCh38
NC_000022.10:g.19960503T>C , CM000684.1:g.19960503T>C	GRCh37
NC_000022.9:g.18340503T>C	NCBI36
NG_023326.1:g.48807A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263207.8:c.2495A>G MANE Select	ENSP00000263207.3:p.Tyr832Cys
ENST00000263207.7:c.2495A>G	ENSP00000263207.3:p.Tyr832Cys
ENST00000401994.5:c.2306A>G	ENSP00000384341.1:p.Tyr769Cys
ENST00000406259.1:c.2477A>G	ENSP00000385444.1:p.Tyr826Cys
ENST00000406522.5:c.2288A>G	ENSP00000384732.1:p.Tyr763Cys
ENST00000495096.5:n.1417A>G
NM_001670.2:c.2495A>G	NP_001661.1:p.Tyr832Cys
XM_005261242.1:c.2477A>G	XP_005261299.1:p.Tyr826Cys
XM_005261243.3:c.2477A>G	XP_005261300.1:p.Tyr826Cys
XM_005261244.3:c.2477A>G	XP_005261301.1:p.Tyr826Cys
XM_006724243.1:c.2495A>G	XP_006724306.1:p.Tyr832Cys
XM_006724245.2:c.2495A>G	XP_006724308.1:p.Tyr832Cys
XM_006724246.2:c.2249A>G	XP_006724309.1:p.Tyr750Cys
XM_006724247.2:c.2306A>G	XP_006724310.1:p.Tyr769Cys
XM_006724248.2:c.2288A>G	XP_006724311.1:p.Tyr763Cys
XM_011530179.1:c.2462A>G	XP_011528481.1:p.Tyr821Cys
XM_011530180.1:c.2495A>G	XP_011528482.1:p.Tyr832Cys
XM_011530182.1:c.1061A>G	XP_011528484.1:p.Tyr354Cys
XM_011530183.1:c.1043A>G	XP_011528485.1:p.Tyr348Cys
XR_937863.1:n.2582A>G
XR_937864.1:n.2582A>G
XM_005261242.3:c.2477A>G	XP_005261299.1:p.Tyr826Cys
XM_005261243.4:c.2477A>G	XP_005261300.1:p.Tyr826Cys
XM_005261244.4:c.2477A>G	XP_005261301.1:p.Tyr826Cys
XM_006724243.3:c.2495A>G	XP_006724306.1:p.Tyr832Cys
XM_006724245.3:c.2495A>G	XP_006724308.1:p.Tyr832Cys
XM_006724246.4:c.2249A>G	XP_006724309.1:p.Tyr750Cys
XM_006724247.4:c.2306A>G	XP_006724310.1:p.Tyr769Cys
XM_006724248.4:c.2288A>G	XP_006724311.1:p.Tyr763Cys
XM_011530179.3:c.2462A>G	XP_011528481.1:p.Tyr821Cys
XM_011530182.3:c.1061A>G	XP_011528484.1:p.Tyr354Cys
XM_011530183.3:c.1043A>G	XP_011528485.1:p.Tyr348Cys
XM_024452249.1:c.2249A>G	XP_024308017.1:p.Tyr750Cys
XR_937863.2:n.2582A>G
NM_001670.3:c.2495A>G MANE Select	NP_001661.1:p.Tyr832Cys