Canonical Allele Identifier: CA513689180

Gene: ARVCF

Linked Data

• gnomAD v4: 22-19973030-C-A
• MyVariant Identifiers: chr22:g.19960553C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19973030C>A , CM000684.2:g.19973030C>A	GRCh38
NC_000022.10:g.19960553C>A , CM000684.1:g.19960553C>A	GRCh37
NC_000022.9:g.18340553C>A	NCBI36
NG_023326.1:g.48757G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263207.8:c.2445G>T MANE Select	ENSP00000263207.3:p.Ser815=
ENST00000263207.7:c.2445G>T	ENSP00000263207.3:p.Ser815=
ENST00000401994.5:c.2256G>T	ENSP00000384341.1:p.Ser752=
ENST00000406259.1:c.2427G>T	ENSP00000385444.1:p.Ser809=
ENST00000406522.5:c.2238G>T	ENSP00000384732.1:p.Ser746=
ENST00000495096.5:n.1367G>T
NM_001670.2:c.2445G>T	NP_001661.1:p.Ser815=
XM_005261242.1:c.2427G>T	XP_005261299.1:p.Ser809=
XM_005261243.3:c.2427G>T	XP_005261300.1:p.Ser809=
XM_005261244.3:c.2427G>T	XP_005261301.1:p.Ser809=
XM_006724243.1:c.2445G>T	XP_006724306.1:p.Ser815=
XM_006724245.2:c.2445G>T	XP_006724308.1:p.Ser815=
XM_006724246.2:c.2199G>T	XP_006724309.1:p.Ser733=
XM_006724247.2:c.2256G>T	XP_006724310.1:p.Ser752=
XM_006724248.2:c.2238G>T	XP_006724311.1:p.Ser746=
XM_011530179.1:c.2412G>T	XP_011528481.1:p.Ser804=
XM_011530180.1:c.2445G>T	XP_011528482.1:p.Ser815=
XM_011530182.1:c.1011G>T	XP_011528484.1:p.Ser337=
XM_011530183.1:c.993G>T	XP_011528485.1:p.Ser331=
XR_937863.1:n.2532G>T
XR_937864.1:n.2532G>T
XM_005261242.3:c.2427G>T	XP_005261299.1:p.Ser809=
XM_005261243.4:c.2427G>T	XP_005261300.1:p.Ser809=
XM_005261244.4:c.2427G>T	XP_005261301.1:p.Ser809=
XM_006724243.3:c.2445G>T	XP_006724306.1:p.Ser815=
XM_006724245.3:c.2445G>T	XP_006724308.1:p.Ser815=
XM_006724246.4:c.2199G>T	XP_006724309.1:p.Ser733=
XM_006724247.4:c.2256G>T	XP_006724310.1:p.Ser752=
XM_006724248.4:c.2238G>T	XP_006724311.1:p.Ser746=
XM_011530179.3:c.2412G>T	XP_011528481.1:p.Ser804=
XM_011530182.3:c.1011G>T	XP_011528484.1:p.Ser337=
XM_011530183.3:c.993G>T	XP_011528485.1:p.Ser331=
XM_024452249.1:c.2199G>T	XP_024308017.1:p.Ser733=
XR_937863.2:n.2532G>T
NM_001670.3:c.2445G>T MANE Select	NP_001661.1:p.Ser815=