Canonical Allele Identifier: CA10105109

Gene: ARVCF

Linked Data

• dbSNP Id: rs116731572
• ExAC: 22:19960548 C / T
• gnomAD v2: 22-19960548-C-T
• gnomAD v4: 22-19973025-C-T
• COSMIC: COSM1165245
• MyVariant Identifiers: chr22:g.19960548C>T (hg19) ; chr22:g.19973025C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19973025C>T , CM000684.2:g.19973025C>T	GRCh38
NC_000022.10:g.19960548C>T , CM000684.1:g.19960548C>T	GRCh37
NC_000022.9:g.18340548C>T	NCBI36
NG_023326.1:g.48762G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263207.8:c.2450G>A MANE Select	ENSP00000263207.3:p.Arg817His
ENST00000263207.7:c.2450G>A	ENSP00000263207.3:p.Arg817His
ENST00000401994.5:c.2261G>A	ENSP00000384341.1:p.Arg754His
ENST00000406259.1:c.2432G>A	ENSP00000385444.1:p.Arg811His
ENST00000406522.5:c.2243G>A	ENSP00000384732.1:p.Arg748His
ENST00000495096.5:n.1372G>A
NM_001670.2:c.2450G>A	NP_001661.1:p.Arg817His
XM_005261242.1:c.2432G>A	XP_005261299.1:p.Arg811His
XM_005261243.3:c.2432G>A	XP_005261300.1:p.Arg811His
XM_005261244.3:c.2432G>A	XP_005261301.1:p.Arg811His
XM_006724243.1:c.2450G>A	XP_006724306.1:p.Arg817His
XM_006724245.2:c.2450G>A	XP_006724308.1:p.Arg817His
XM_006724246.2:c.2204G>A	XP_006724309.1:p.Arg735His
XM_006724247.2:c.2261G>A	XP_006724310.1:p.Arg754His
XM_006724248.2:c.2243G>A	XP_006724311.1:p.Arg748His
XM_011530179.1:c.2417G>A	XP_011528481.1:p.Arg806His
XM_011530180.1:c.2450G>A	XP_011528482.1:p.Arg817His
XM_011530182.1:c.1016G>A	XP_011528484.1:p.Arg339His
XM_011530183.1:c.998G>A	XP_011528485.1:p.Arg333His
XR_937863.1:n.2537G>A
XR_937864.1:n.2537G>A
XM_005261242.3:c.2432G>A	XP_005261299.1:p.Arg811His
XM_005261243.4:c.2432G>A	XP_005261300.1:p.Arg811His
XM_005261244.4:c.2432G>A	XP_005261301.1:p.Arg811His
XM_006724243.3:c.2450G>A	XP_006724306.1:p.Arg817His
XM_006724245.3:c.2450G>A	XP_006724308.1:p.Arg817His
XM_006724246.4:c.2204G>A	XP_006724309.1:p.Arg735His
XM_006724247.4:c.2261G>A	XP_006724310.1:p.Arg754His
XM_006724248.4:c.2243G>A	XP_006724311.1:p.Arg748His
XM_011530179.3:c.2417G>A	XP_011528481.1:p.Arg806His
XM_011530182.3:c.1016G>A	XP_011528484.1:p.Arg339His
XM_011530183.3:c.998G>A	XP_011528485.1:p.Arg333His
XM_024452249.1:c.2204G>A	XP_024308017.1:p.Arg735His
XR_937863.2:n.2537G>A
NM_001670.3:c.2450G>A MANE Select	NP_001661.1:p.Arg817His