Canonical Allele Identifier: CA638366500

Gene: ARVCF

Linked Data

• dbSNP Id: rs1269637340
• gnomAD v2: 22-19984414-C-T
• gnomAD v3: 22-19996891-C-T
• gnomAD v4: 22-19996891-C-T
• MyVariant Identifiers: chr22:g.19984414C>T (hg19) ; chr22:g.19996891C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19996891C>T , CM000684.2:g.19996891C>T	GRCh38
NC_000022.10:g.19984414C>T , CM000684.1:g.19984414C>T	GRCh37
NC_000022.9:g.18364414C>T	NCBI36
NG_023326.1:g.24896G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263207.8:c.-18-6079G>A MANE Select	ENSP00000263207.3:n.-18-6079G>A
ENST00000263207.7:c.-18-6079G>A	ENSP00000263207.3:n.-18-6079G>A
ENST00000467828.1:n.158-14800G>A
NM_001670.2:c.-18-6079G>A	NP_001661.1:n.-18-6079G>A
XM_005261242.1:c.-18-6079G>A	XP_005261299.1:n.-18-6079G>A
XM_005261243.3:c.-18-6079G>A	XP_005261300.1:n.-18-6079G>A
XM_005261244.3:c.-18-6079G>A	XP_005261301.1:n.-18-6079G>A
XM_006724243.1:c.-18-6079G>A	XP_006724306.1:n.-18-6079G>A
XM_006724245.2:c.-18-6079G>A	XP_006724308.1:n.-18-6079G>A
XM_006724249.2:c.-18-6079G>A	XP_006724312.1:n.-18-6079G>A
XM_006724250.2:c.-18-6079G>A	XP_006724313.1:n.-18-6079G>A
XM_011530179.1:c.-18-6079G>A	XP_011528481.1:n.-18-6079G>A
XM_011530180.1:c.-18-6079G>A	XP_011528482.1:n.-18-6079G>A
XM_011530181.1:c.-18-6079G>A	XP_011528483.1:n.-18-6079G>A
XR_937863.1:n.269-6079G>A
XR_937864.1:n.269-6079G>A
XM_005261242.3:c.-18-6079G>A	XP_005261299.1:n.-18-6079G>A
XM_005261243.4:c.-18-6079G>A	XP_005261300.1:n.-18-6079G>A
XM_005261244.4:c.-18-6079G>A	XP_005261301.1:n.-18-6079G>A
XM_006724243.3:c.-18-6079G>A	XP_006724306.1:n.-18-6079G>A
XM_006724245.3:c.-18-6079G>A	XP_006724308.1:n.-18-6079G>A
XM_006724249.3:c.-18-6079G>A	XP_006724312.1:n.-18-6079G>A
XM_006724250.3:c.-18-6079G>A	XP_006724313.1:n.-18-6079G>A
XM_011530179.3:c.-18-6079G>A	XP_011528481.1:n.-18-6079G>A
XR_937863.2:n.269-6079G>A
NM_001670.3:c.-18-6079G>A MANE Select	NP_001661.1:n.-18-6079G>A