Canonical Allele Identifier: CA10104955

Gene: ARVCF

Linked Data

• dbSNP Id: rs759083877
• ExAC: 22:19959896 C / T
• gnomAD v2: 22-19959896-C-T
• MyVariant Identifiers: chr22:g.19959896C>T (hg19) ; chr22:g.19972373C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19972373C>T , CM000684.2:g.19972373C>T	GRCh38
NC_000022.10:g.19959896C>T , CM000684.1:g.19959896C>T	GRCh37
NC_000022.9:g.18339896C>T	NCBI36
NG_023326.1:g.49414G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263207.8:c.2680G>A MANE Select	ENSP00000263207.3:p.Asp894Asn
ENST00000263207.7:c.2680G>A	ENSP00000263207.3:p.Asp894Asn
ENST00000401994.5:c.2491G>A	ENSP00000384341.1:p.Asp831Asn
ENST00000406259.1:c.2662G>A	ENSP00000385444.1:p.Asp888Asn
ENST00000406522.5:c.2473G>A	ENSP00000384732.1:p.Asp825Asn
ENST00000495096.5:n.1602G>A
NM_001670.2:c.2680G>A	NP_001661.1:p.Asp894Asn
XM_005261242.1:c.2662G>A	XP_005261299.1:p.Asp888Asn
XM_005261243.3:c.2662G>A	XP_005261300.1:p.Asp888Asn
XM_005261244.3:c.2662G>A	XP_005261301.1:p.Asp888Asn
XM_006724243.1:c.2680G>A	XP_006724306.1:p.Asp894Asn
XM_006724245.2:c.2680G>A	XP_006724308.1:p.Asp894Asn
XM_006724246.2:c.2434G>A	XP_006724309.1:p.Asp812Asn
XM_006724247.2:c.2491G>A	XP_006724310.1:p.Asp831Asn
XM_006724248.2:c.2473G>A	XP_006724311.1:p.Asp825Asn
XM_011530179.1:c.2647G>A	XP_011528481.1:p.Asp883Asn
XM_011530180.1:c.2680G>A	XP_011528482.1:p.Asp894Asn
XM_011530182.1:c.1246G>A	XP_011528484.1:p.Asp416Asn
XM_011530183.1:c.1228G>A	XP_011528485.1:p.Asp410Asn
XR_937863.1:n.2767G>A
XR_937864.1:n.2767G>A
XM_005261242.3:c.2662G>A	XP_005261299.1:p.Asp888Asn
XM_005261243.4:c.2662G>A	XP_005261300.1:p.Asp888Asn
XM_005261244.4:c.2662G>A	XP_005261301.1:p.Asp888Asn
XM_006724243.3:c.2680G>A	XP_006724306.1:p.Asp894Asn
XM_006724245.3:c.2680G>A	XP_006724308.1:p.Asp894Asn
XM_006724246.4:c.2434G>A	XP_006724309.1:p.Asp812Asn
XM_006724247.4:c.2491G>A	XP_006724310.1:p.Asp831Asn
XM_006724248.4:c.2473G>A	XP_006724311.1:p.Asp825Asn
XM_011530179.3:c.2647G>A	XP_011528481.1:p.Asp883Asn
XM_011530182.3:c.1246G>A	XP_011528484.1:p.Asp416Asn
XM_011530183.3:c.1228G>A	XP_011528485.1:p.Asp410Asn
XM_024452249.1:c.2434G>A	XP_024308017.1:p.Asp812Asn
XR_937863.2:n.2767G>A
NM_001670.3:c.2680G>A MANE Select	NP_001661.1:p.Asp894Asn