Canonical Allele Identifier: CA322126195

Gene: ARVCF

Linked Data

• ClinVar Variation Id: 2317527
• ClinVar RCV Id: RCV004159751
• dbSNP Id: rs1021528226
• gnomAD v2: 22-19960346-G-C
• gnomAD v3: 22-19972823-G-C
• gnomAD v4: 22-19972823-G-C
• MyVariant Identifiers: chr22:g.19960346G>C (hg19) ; chr22:g.19972823G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19972823G>C , CM000684.2:g.19972823G>C	GRCh38
NC_000022.10:g.19960346G>C , CM000684.1:g.19960346G>C	GRCh37
NC_000022.9:g.18340346G>C	NCBI36
NG_023326.1:g.48964C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263207.8:c.2555C>G MANE Select	ENSP00000263207.3:p.Ala852Gly
ENST00000263207.7:c.2555C>G	ENSP00000263207.3:p.Ala852Gly
ENST00000401994.5:c.2366C>G	ENSP00000384341.1:p.Ala789Gly
ENST00000406259.1:c.2537C>G	ENSP00000385444.1:p.Ala846Gly
ENST00000406522.5:c.2348C>G	ENSP00000384732.1:p.Ala783Gly
ENST00000495096.5:n.1477C>G
NM_001670.2:c.2555C>G	NP_001661.1:p.Ala852Gly
XM_005261242.1:c.2537C>G	XP_005261299.1:p.Ala846Gly
XM_005261243.3:c.2537C>G	XP_005261300.1:p.Ala846Gly
XM_005261244.3:c.2537C>G	XP_005261301.1:p.Ala846Gly
XM_006724243.1:c.2555C>G	XP_006724306.1:p.Ala852Gly
XM_006724245.2:c.2555C>G	XP_006724308.1:p.Ala852Gly
XM_006724246.2:c.2309C>G	XP_006724309.1:p.Ala770Gly
XM_006724247.2:c.2366C>G	XP_006724310.1:p.Ala789Gly
XM_006724248.2:c.2348C>G	XP_006724311.1:p.Ala783Gly
XM_011530179.1:c.2522C>G	XP_011528481.1:p.Ala841Gly
XM_011530180.1:c.2555C>G	XP_011528482.1:p.Ala852Gly
XM_011530182.1:c.1121C>G	XP_011528484.1:p.Ala374Gly
XM_011530183.1:c.1103C>G	XP_011528485.1:p.Ala368Gly
XR_937863.1:n.2642C>G
XR_937864.1:n.2642C>G
XM_005261242.3:c.2537C>G	XP_005261299.1:p.Ala846Gly
XM_005261243.4:c.2537C>G	XP_005261300.1:p.Ala846Gly
XM_005261244.4:c.2537C>G	XP_005261301.1:p.Ala846Gly
XM_006724243.3:c.2555C>G	XP_006724306.1:p.Ala852Gly
XM_006724245.3:c.2555C>G	XP_006724308.1:p.Ala852Gly
XM_006724246.4:c.2309C>G	XP_006724309.1:p.Ala770Gly
XM_006724247.4:c.2366C>G	XP_006724310.1:p.Ala789Gly
XM_006724248.4:c.2348C>G	XP_006724311.1:p.Ala783Gly
XM_011530179.3:c.2522C>G	XP_011528481.1:p.Ala841Gly
XM_011530182.3:c.1121C>G	XP_011528484.1:p.Ala374Gly
XM_011530183.3:c.1103C>G	XP_011528485.1:p.Ala368Gly
XM_024452249.1:c.2309C>G	XP_024308017.1:p.Ala770Gly
XR_937863.2:n.2642C>G
NM_001670.3:c.2555C>G MANE Select	NP_001661.1:p.Ala852Gly