Canonical Allele Identifier: CA10104919

Gene: ARVCF

Linked Data

• ClinVar Variation Id: 1234835
• ClinVar RCV Id: RCV001621599
• dbSNP Id: rs165815
• ExAC: 22:19959473 C / T
• gnomAD v2: 22-19959473-C-T
• gnomAD v3: 22-19971950-C-T
• gnomAD v4: 22-19971950-C-T
• MyVariant Identifiers: chr22:g.19959473C>T (hg19) ; chr22:g.19971950C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19971950C>T , CM000684.2:g.19971950C>T	GRCh38
NC_000022.10:g.19959473C>T , CM000684.1:g.19959473C>T	GRCh37
NC_000022.9:g.18339473C>T	NCBI36
NG_011526.1:g.35211C>T
NG_023326.1:g.49837G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000263207.8:c.2717G>A MANE Select	ENSP00000263207.3:p.Arg906Gln
ENST00000263207.7:c.2717G>A	ENSP00000263207.3:p.Arg906Gln
ENST00000401994.5:c.2528G>A	ENSP00000384341.1:p.Arg843Gln
ENST00000406259.1:c.2699G>A	ENSP00000385444.1:p.Arg900Gln
ENST00000406522.5:c.2510G>A	ENSP00000384732.1:p.Arg837Gln
ENST00000495096.5:n.1639G>A
NM_001670.2:c.2717G>A	NP_001661.1:p.Arg906Gln
XM_005261242.1:c.2699G>A	XP_005261299.1:p.Arg900Gln
XM_005261243.3:c.2699G>A	XP_005261300.1:p.Arg900Gln
XM_005261244.3:c.2699G>A	XP_005261301.1:p.Arg900Gln
XM_006724243.1:c.2717G>A	XP_006724306.1:p.Arg906Gln
XM_006724245.2:c.2717G>A	XP_006724308.1:p.Arg906Gln
XM_006724246.2:c.2471G>A	XP_006724309.1:p.Arg824Gln
XM_006724247.2:c.2528G>A	XP_006724310.1:p.Arg843Gln
XM_006724248.2:c.2510G>A	XP_006724311.1:p.Arg837Gln
XM_011530179.1:c.2684G>A	XP_011528481.1:p.Arg895Gln
XM_011530180.1:c.2717G>A	XP_011528482.1:p.Arg906Gln
XM_011530182.1:c.1283G>A	XP_011528484.1:p.Arg428Gln
XM_011530183.1:c.1265G>A	XP_011528485.1:p.Arg422Gln
XR_937863.1:n.2804G>A
XR_937864.1:n.2804G>A
XM_005261242.3:c.2699G>A	XP_005261299.1:p.Arg900Gln
XM_005261243.4:c.2699G>A	XP_005261300.1:p.Arg900Gln
XM_005261244.4:c.2699G>A	XP_005261301.1:p.Arg900Gln
XM_006724243.3:c.2717G>A	XP_006724306.1:p.Arg906Gln
XM_006724245.3:c.2717G>A	XP_006724308.1:p.Arg906Gln
XM_006724246.4:c.2471G>A	XP_006724309.1:p.Arg824Gln
XM_006724247.4:c.2528G>A	XP_006724310.1:p.Arg843Gln
XM_006724248.4:c.2510G>A	XP_006724311.1:p.Arg837Gln
XM_011530179.3:c.2684G>A	XP_011528481.1:p.Arg895Gln
XM_011530182.3:c.1283G>A	XP_011528484.1:p.Arg428Gln
XM_011530183.3:c.1265G>A	XP_011528485.1:p.Arg422Gln
XM_024452249.1:c.2471G>A	XP_024308017.1:p.Arg824Gln
XR_937863.2:n.2804G>A
NM_001670.3:c.2717G>A MANE Select	NP_001661.1:p.Arg906Gln