Canonical Allele Identifier: CA410694778

Gene: ARVCF

Linked Data

• dbSNP Id: rs1942914975
• gnomAD v4: 22-19972995-T-C
• MyVariant Identifiers: chr22:g.19960518T>C (hg19) ; chr22:g.19972995T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19972995T>C , CM000684.2:g.19972995T>C	GRCh38
NC_000022.10:g.19960518T>C , CM000684.1:g.19960518T>C	GRCh37
NC_000022.9:g.18340518T>C	NCBI36
NG_023326.1:g.48792A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263207.8:c.2480A>G MANE Select	ENSP00000263207.3:p.Gln827Arg
ENST00000263207.7:c.2480A>G	ENSP00000263207.3:p.Gln827Arg
ENST00000401994.5:c.2291A>G	ENSP00000384341.1:p.Gln764Arg
ENST00000406259.1:c.2462A>G	ENSP00000385444.1:p.Gln821Arg
ENST00000406522.5:c.2273A>G	ENSP00000384732.1:p.Gln758Arg
ENST00000495096.5:n.1402A>G
NM_001670.2:c.2480A>G	NP_001661.1:p.Gln827Arg
XM_005261242.1:c.2462A>G	XP_005261299.1:p.Gln821Arg
XM_005261243.3:c.2462A>G	XP_005261300.1:p.Gln821Arg
XM_005261244.3:c.2462A>G	XP_005261301.1:p.Gln821Arg
XM_006724243.1:c.2480A>G	XP_006724306.1:p.Gln827Arg
XM_006724245.2:c.2480A>G	XP_006724308.1:p.Gln827Arg
XM_006724246.2:c.2234A>G	XP_006724309.1:p.Gln745Arg
XM_006724247.2:c.2291A>G	XP_006724310.1:p.Gln764Arg
XM_006724248.2:c.2273A>G	XP_006724311.1:p.Gln758Arg
XM_011530179.1:c.2447A>G	XP_011528481.1:p.Gln816Arg
XM_011530180.1:c.2480A>G	XP_011528482.1:p.Gln827Arg
XM_011530182.1:c.1046A>G	XP_011528484.1:p.Gln349Arg
XM_011530183.1:c.1028A>G	XP_011528485.1:p.Gln343Arg
XR_937863.1:n.2567A>G
XR_937864.1:n.2567A>G
XM_005261242.3:c.2462A>G	XP_005261299.1:p.Gln821Arg
XM_005261243.4:c.2462A>G	XP_005261300.1:p.Gln821Arg
XM_005261244.4:c.2462A>G	XP_005261301.1:p.Gln821Arg
XM_006724243.3:c.2480A>G	XP_006724306.1:p.Gln827Arg
XM_006724245.3:c.2480A>G	XP_006724308.1:p.Gln827Arg
XM_006724246.4:c.2234A>G	XP_006724309.1:p.Gln745Arg
XM_006724247.4:c.2291A>G	XP_006724310.1:p.Gln764Arg
XM_006724248.4:c.2273A>G	XP_006724311.1:p.Gln758Arg
XM_011530179.3:c.2447A>G	XP_011528481.1:p.Gln816Arg
XM_011530182.3:c.1046A>G	XP_011528484.1:p.Gln349Arg
XM_011530183.3:c.1028A>G	XP_011528485.1:p.Gln343Arg
XM_024452249.1:c.2234A>G	XP_024308017.1:p.Gln745Arg
XR_937863.2:n.2567A>G
NM_001670.3:c.2480A>G MANE Select	NP_001661.1:p.Gln827Arg