Canonical Allele Identifier: CA10104964
Gene: ARVCF HGNC NCBI

Linked Data

ClinVar Variation Id: 3130000
ClinVar RCV Id: RCV004418345
dbSNP Id: rs114219025

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19972396C>A , CM000684.2:g.19972396C>A GRCh38
NC_000022.10:g.19959919C>A , CM000684.1:g.19959919C>A GRCh37
NC_000022.9:g.18339919C>A NCBI36
NG_023326.1:g.49391G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263207.8:c.2657G>T MANE Select ENSP00000263207.3:p.Gly886Val
ENST00000263207.7:c.2657G>T ENSP00000263207.3:p.Gly886Val
ENST00000401994.5:c.2468G>T ENSP00000384341.1:p.Gly823Val
ENST00000406259.1:c.2639G>T ENSP00000385444.1:p.Gly880Val
ENST00000406522.5:c.2450G>T ENSP00000384732.1:p.Gly817Val
ENST00000495096.5:n.1579G>T
NM_001670.2:c.2657G>T NP_001661.1:p.Gly886Val
XM_005261242.1:c.2639G>T XP_005261299.1:p.Gly880Val
XM_005261243.3:c.2639G>T XP_005261300.1:p.Gly880Val
XM_005261244.3:c.2639G>T XP_005261301.1:p.Gly880Val
XM_006724243.1:c.2657G>T XP_006724306.1:p.Gly886Val
XM_006724245.2:c.2657G>T XP_006724308.1:p.Gly886Val
XM_006724246.2:c.2411G>T XP_006724309.1:p.Gly804Val
XM_006724247.2:c.2468G>T XP_006724310.1:p.Gly823Val
XM_006724248.2:c.2450G>T XP_006724311.1:p.Gly817Val
XM_011530179.1:c.2624G>T XP_011528481.1:p.Gly875Val
XM_011530180.1:c.2657G>T XP_011528482.1:p.Gly886Val
XM_011530182.1:c.1223G>T XP_011528484.1:p.Gly408Val
XM_011530183.1:c.1205G>T XP_011528485.1:p.Gly402Val
XR_937863.1:n.2744G>T
XR_937864.1:n.2744G>T
XM_005261242.3:c.2639G>T XP_005261299.1:p.Gly880Val
XM_005261243.4:c.2639G>T XP_005261300.1:p.Gly880Val
XM_005261244.4:c.2639G>T XP_005261301.1:p.Gly880Val
XM_006724243.3:c.2657G>T XP_006724306.1:p.Gly886Val
XM_006724245.3:c.2657G>T XP_006724308.1:p.Gly886Val
XM_006724246.4:c.2411G>T XP_006724309.1:p.Gly804Val
XM_006724247.4:c.2468G>T XP_006724310.1:p.Gly823Val
XM_006724248.4:c.2450G>T XP_006724311.1:p.Gly817Val
XM_011530179.3:c.2624G>T XP_011528481.1:p.Gly875Val
XM_011530182.3:c.1223G>T XP_011528484.1:p.Gly408Val
XM_011530183.3:c.1205G>T XP_011528485.1:p.Gly402Val
XM_024452249.1:c.2411G>T XP_024308017.1:p.Gly804Val
XR_937863.2:n.2744G>T
NM_001670.3:c.2657G>T MANE Select NP_001661.1:p.Gly886Val