Canonical Allele Identifier: CA10104999

Gene: ARVCF

Linked Data

• dbSNP Id: rs767998510
• ExAC: 22:19960263 G / A
• gnomAD v2: 22-19960263-G-A
• gnomAD v3: 22-19972740-G-A
• gnomAD v4: 22-19972740-G-A
• MyVariant Identifiers: chr22:g.19960263G>A (hg19) ; chr22:g.19972740G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19972740G>A , CM000684.2:g.19972740G>A	GRCh38
NC_000022.10:g.19960263G>A , CM000684.1:g.19960263G>A	GRCh37
NC_000022.9:g.18340263G>A	NCBI36
NG_023326.1:g.49047C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263207.8:c.2638C>T MANE Select	ENSP00000263207.3:p.Leu880Phe
ENST00000263207.7:c.2638C>T	ENSP00000263207.3:p.Leu880Phe
ENST00000401994.5:c.2449C>T	ENSP00000384341.1:p.Leu817Phe
ENST00000406259.1:c.2620C>T	ENSP00000385444.1:p.Leu874Phe
ENST00000406522.5:c.2431C>T	ENSP00000384732.1:p.Leu811Phe
ENST00000495096.5:n.1560C>T
NM_001670.2:c.2638C>T	NP_001661.1:p.Leu880Phe
XM_005261242.1:c.2620C>T	XP_005261299.1:p.Leu874Phe
XM_005261243.3:c.2620C>T	XP_005261300.1:p.Leu874Phe
XM_005261244.3:c.2620C>T	XP_005261301.1:p.Leu874Phe
XM_006724243.1:c.2638C>T	XP_006724306.1:p.Leu880Phe
XM_006724245.2:c.2638C>T	XP_006724308.1:p.Leu880Phe
XM_006724246.2:c.2392C>T	XP_006724309.1:p.Leu798Phe
XM_006724247.2:c.2449C>T	XP_006724310.1:p.Leu817Phe
XM_006724248.2:c.2431C>T	XP_006724311.1:p.Leu811Phe
XM_011530179.1:c.2605C>T	XP_011528481.1:p.Leu869Phe
XM_011530180.1:c.2638C>T	XP_011528482.1:p.Leu880Phe
XM_011530182.1:c.1204C>T	XP_011528484.1:p.Leu402Phe
XM_011530183.1:c.1186C>T	XP_011528485.1:p.Leu396Phe
XR_937863.1:n.2725C>T
XR_937864.1:n.2725C>T
XM_005261242.3:c.2620C>T	XP_005261299.1:p.Leu874Phe
XM_005261243.4:c.2620C>T	XP_005261300.1:p.Leu874Phe
XM_005261244.4:c.2620C>T	XP_005261301.1:p.Leu874Phe
XM_006724243.3:c.2638C>T	XP_006724306.1:p.Leu880Phe
XM_006724245.3:c.2638C>T	XP_006724308.1:p.Leu880Phe
XM_006724246.4:c.2392C>T	XP_006724309.1:p.Leu798Phe
XM_006724247.4:c.2449C>T	XP_006724310.1:p.Leu817Phe
XM_006724248.4:c.2431C>T	XP_006724311.1:p.Leu811Phe
XM_011530179.3:c.2605C>T	XP_011528481.1:p.Leu869Phe
XM_011530182.3:c.1204C>T	XP_011528484.1:p.Leu402Phe
XM_011530183.3:c.1186C>T	XP_011528485.1:p.Leu396Phe
XM_024452249.1:c.2392C>T	XP_024308017.1:p.Leu798Phe
XR_937863.2:n.2725C>T
NM_001670.3:c.2638C>T MANE Select	NP_001661.1:p.Leu880Phe