Canonical Allele Identifier: CA410694682

Gene: ARVCF

Linked Data

• gnomAD v4: 22-19972971-A-G
• MyVariant Identifiers: chr22:g.19960494A>G (hg19) ; chr22:g.19972971A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19972971A>G , CM000684.2:g.19972971A>G	GRCh38
NC_000022.10:g.19960494A>G , CM000684.1:g.19960494A>G	GRCh37
NC_000022.9:g.18340494A>G	NCBI36
NG_023326.1:g.48816T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263207.8:c.2504T>C MANE Select	ENSP00000263207.3:p.Leu835Pro
ENST00000263207.7:c.2504T>C	ENSP00000263207.3:p.Leu835Pro
ENST00000401994.5:c.2315T>C	ENSP00000384341.1:p.Leu772Pro
ENST00000406259.1:c.2486T>C	ENSP00000385444.1:p.Leu829Pro
ENST00000406522.5:c.2297T>C	ENSP00000384732.1:p.Leu766Pro
ENST00000495096.5:n.1426T>C
NM_001670.2:c.2504T>C	NP_001661.1:p.Leu835Pro
XM_005261242.1:c.2486T>C	XP_005261299.1:p.Leu829Pro
XM_005261243.3:c.2486T>C	XP_005261300.1:p.Leu829Pro
XM_005261244.3:c.2486T>C	XP_005261301.1:p.Leu829Pro
XM_006724243.1:c.2504T>C	XP_006724306.1:p.Leu835Pro
XM_006724245.2:c.2504T>C	XP_006724308.1:p.Leu835Pro
XM_006724246.2:c.2258T>C	XP_006724309.1:p.Leu753Pro
XM_006724247.2:c.2315T>C	XP_006724310.1:p.Leu772Pro
XM_006724248.2:c.2297T>C	XP_006724311.1:p.Leu766Pro
XM_011530179.1:c.2471T>C	XP_011528481.1:p.Leu824Pro
XM_011530180.1:c.2504T>C	XP_011528482.1:p.Leu835Pro
XM_011530182.1:c.1070T>C	XP_011528484.1:p.Leu357Pro
XM_011530183.1:c.1052T>C	XP_011528485.1:p.Leu351Pro
XR_937863.1:n.2591T>C
XR_937864.1:n.2591T>C
XM_005261242.3:c.2486T>C	XP_005261299.1:p.Leu829Pro
XM_005261243.4:c.2486T>C	XP_005261300.1:p.Leu829Pro
XM_005261244.4:c.2486T>C	XP_005261301.1:p.Leu829Pro
XM_006724243.3:c.2504T>C	XP_006724306.1:p.Leu835Pro
XM_006724245.3:c.2504T>C	XP_006724308.1:p.Leu835Pro
XM_006724246.4:c.2258T>C	XP_006724309.1:p.Leu753Pro
XM_006724247.4:c.2315T>C	XP_006724310.1:p.Leu772Pro
XM_006724248.4:c.2297T>C	XP_006724311.1:p.Leu766Pro
XM_011530179.3:c.2471T>C	XP_011528481.1:p.Leu824Pro
XM_011530182.3:c.1070T>C	XP_011528484.1:p.Leu357Pro
XM_011530183.3:c.1052T>C	XP_011528485.1:p.Leu351Pro
XM_024452249.1:c.2258T>C	XP_024308017.1:p.Leu753Pro
XR_937863.2:n.2591T>C
NM_001670.3:c.2504T>C MANE Select	NP_001661.1:p.Leu835Pro