Canonical Allele Identifier: CA410694780

Gene: ARVCF

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263207.8:c.2480A>C MANE Select	ENSP00000263207.3:p.Gln827Pro
ENST00000263207.7:c.2480A>C	ENSP00000263207.3:p.Gln827Pro
ENST00000401994.5:c.2291A>C	ENSP00000384341.1:p.Gln764Pro
ENST00000406259.1:c.2462A>C	ENSP00000385444.1:p.Gln821Pro
ENST00000406522.5:c.2273A>C	ENSP00000384732.1:p.Gln758Pro
ENST00000495096.5:n.1402A>C
NM_001670.2:c.2480A>C	NP_001661.1:p.Gln827Pro
XM_005261242.1:c.2462A>C	XP_005261299.1:p.Gln821Pro
XM_005261243.3:c.2462A>C	XP_005261300.1:p.Gln821Pro
XM_005261244.3:c.2462A>C	XP_005261301.1:p.Gln821Pro
XM_006724243.1:c.2480A>C	XP_006724306.1:p.Gln827Pro
XM_006724245.2:c.2480A>C	XP_006724308.1:p.Gln827Pro
XM_006724246.2:c.2234A>C	XP_006724309.1:p.Gln745Pro
XM_006724247.2:c.2291A>C	XP_006724310.1:p.Gln764Pro
XM_006724248.2:c.2273A>C	XP_006724311.1:p.Gln758Pro
XM_011530179.1:c.2447A>C	XP_011528481.1:p.Gln816Pro
XM_011530180.1:c.2480A>C	XP_011528482.1:p.Gln827Pro
XM_011530182.1:c.1046A>C	XP_011528484.1:p.Gln349Pro
XM_011530183.1:c.1028A>C	XP_011528485.1:p.Gln343Pro
XR_937863.1:n.2567A>C
XR_937864.1:n.2567A>C
XM_005261242.3:c.2462A>C	XP_005261299.1:p.Gln821Pro
XM_005261243.4:c.2462A>C	XP_005261300.1:p.Gln821Pro
XM_005261244.4:c.2462A>C	XP_005261301.1:p.Gln821Pro
XM_006724243.3:c.2480A>C	XP_006724306.1:p.Gln827Pro
XM_006724245.3:c.2480A>C	XP_006724308.1:p.Gln827Pro
XM_006724246.4:c.2234A>C	XP_006724309.1:p.Gln745Pro
XM_006724247.4:c.2291A>C	XP_006724310.1:p.Gln764Pro
XM_006724248.4:c.2273A>C	XP_006724311.1:p.Gln758Pro
XM_011530179.3:c.2447A>C	XP_011528481.1:p.Gln816Pro
XM_011530182.3:c.1046A>C	XP_011528484.1:p.Gln349Pro
XM_011530183.3:c.1028A>C	XP_011528485.1:p.Gln343Pro
XM_024452249.1:c.2234A>C	XP_024308017.1:p.Gln745Pro
XR_937863.2:n.2567A>C
NM_001670.3:c.2480A>C MANE Select	NP_001661.1:p.Gln827Pro