Canonical Allele Identifier: CA410694573

Gene: ARVCF

Linked Data

• dbSNP Id: rs1942908516
• gnomAD v4: 22-19972939-T-C
• MyVariant Identifiers: chr22:g.19960462T>C (hg19) ; chr22:g.19972939T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19972939T>C , CM000684.2:g.19972939T>C	GRCh38
NC_000022.10:g.19960462T>C , CM000684.1:g.19960462T>C	GRCh37
NC_000022.9:g.18340462T>C	NCBI36
NG_023326.1:g.48848A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263207.8:c.2536A>G MANE Select	ENSP00000263207.3:p.Lys846Glu
ENST00000263207.7:c.2536A>G	ENSP00000263207.3:p.Lys846Glu
ENST00000401994.5:c.2347A>G	ENSP00000384341.1:p.Lys783Glu
ENST00000406259.1:c.2518A>G	ENSP00000385444.1:p.Lys840Glu
ENST00000406522.5:c.2329A>G	ENSP00000384732.1:p.Lys777Glu
ENST00000495096.5:n.1458A>G
NM_001670.2:c.2536A>G	NP_001661.1:p.Lys846Glu
XM_005261242.1:c.2518A>G	XP_005261299.1:p.Lys840Glu
XM_005261243.3:c.2518A>G	XP_005261300.1:p.Lys840Glu
XM_005261244.3:c.2518A>G	XP_005261301.1:p.Lys840Glu
XM_006724243.1:c.2536A>G	XP_006724306.1:p.Lys846Glu
XM_006724245.2:c.2536A>G	XP_006724308.1:p.Lys846Glu
XM_006724246.2:c.2290A>G	XP_006724309.1:p.Lys764Glu
XM_006724247.2:c.2347A>G	XP_006724310.1:p.Lys783Glu
XM_006724248.2:c.2329A>G	XP_006724311.1:p.Lys777Glu
XM_011530179.1:c.2503A>G	XP_011528481.1:p.Lys835Glu
XM_011530180.1:c.2536A>G	XP_011528482.1:p.Lys846Glu
XM_011530182.1:c.1102A>G	XP_011528484.1:p.Lys368Glu
XM_011530183.1:c.1084A>G	XP_011528485.1:p.Lys362Glu
XR_937863.1:n.2623A>G
XR_937864.1:n.2623A>G
XM_005261242.3:c.2518A>G	XP_005261299.1:p.Lys840Glu
XM_005261243.4:c.2518A>G	XP_005261300.1:p.Lys840Glu
XM_005261244.4:c.2518A>G	XP_005261301.1:p.Lys840Glu
XM_006724243.3:c.2536A>G	XP_006724306.1:p.Lys846Glu
XM_006724245.3:c.2536A>G	XP_006724308.1:p.Lys846Glu
XM_006724246.4:c.2290A>G	XP_006724309.1:p.Lys764Glu
XM_006724247.4:c.2347A>G	XP_006724310.1:p.Lys783Glu
XM_006724248.4:c.2329A>G	XP_006724311.1:p.Lys777Glu
XM_011530179.3:c.2503A>G	XP_011528481.1:p.Lys835Glu
XM_011530182.3:c.1102A>G	XP_011528484.1:p.Lys368Glu
XM_011530183.3:c.1084A>G	XP_011528485.1:p.Lys362Glu
XM_024452249.1:c.2290A>G	XP_024308017.1:p.Lys764Glu
XR_937863.2:n.2623A>G
NM_001670.3:c.2536A>G MANE Select	NP_001661.1:p.Lys846Glu