Canonical Allele Identifier: CA410693393

Gene: ARVCF

Linked Data

• MyVariant Identifiers: chr22:g.19959911C>G (hg19) ; chr22:g.19972388C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19972388C>G , CM000684.2:g.19972388C>G	GRCh38
NC_000022.10:g.19959911C>G , CM000684.1:g.19959911C>G	GRCh37
NC_000022.9:g.18339911C>G	NCBI36
NG_023326.1:g.49399G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263207.8:c.2665G>C MANE Select	ENSP00000263207.3:p.Asp889His
ENST00000263207.7:c.2665G>C	ENSP00000263207.3:p.Asp889His
ENST00000401994.5:c.2476G>C	ENSP00000384341.1:p.Asp826His
ENST00000406259.1:c.2647G>C	ENSP00000385444.1:p.Asp883His
ENST00000406522.5:c.2458G>C	ENSP00000384732.1:p.Asp820His
ENST00000495096.5:n.1587G>C
NM_001670.2:c.2665G>C	NP_001661.1:p.Asp889His
XM_005261242.1:c.2647G>C	XP_005261299.1:p.Asp883His
XM_005261243.3:c.2647G>C	XP_005261300.1:p.Asp883His
XM_005261244.3:c.2647G>C	XP_005261301.1:p.Asp883His
XM_006724243.1:c.2665G>C	XP_006724306.1:p.Asp889His
XM_006724245.2:c.2665G>C	XP_006724308.1:p.Asp889His
XM_006724246.2:c.2419G>C	XP_006724309.1:p.Asp807His
XM_006724247.2:c.2476G>C	XP_006724310.1:p.Asp826His
XM_006724248.2:c.2458G>C	XP_006724311.1:p.Asp820His
XM_011530179.1:c.2632G>C	XP_011528481.1:p.Asp878His
XM_011530180.1:c.2665G>C	XP_011528482.1:p.Asp889His
XM_011530182.1:c.1231G>C	XP_011528484.1:p.Asp411His
XM_011530183.1:c.1213G>C	XP_011528485.1:p.Asp405His
XR_937863.1:n.2752G>C
XR_937864.1:n.2752G>C
XM_005261242.3:c.2647G>C	XP_005261299.1:p.Asp883His
XM_005261243.4:c.2647G>C	XP_005261300.1:p.Asp883His
XM_005261244.4:c.2647G>C	XP_005261301.1:p.Asp883His
XM_006724243.3:c.2665G>C	XP_006724306.1:p.Asp889His
XM_006724245.3:c.2665G>C	XP_006724308.1:p.Asp889His
XM_006724246.4:c.2419G>C	XP_006724309.1:p.Asp807His
XM_006724247.4:c.2476G>C	XP_006724310.1:p.Asp826His
XM_006724248.4:c.2458G>C	XP_006724311.1:p.Asp820His
XM_011530179.3:c.2632G>C	XP_011528481.1:p.Asp878His
XM_011530182.3:c.1231G>C	XP_011528484.1:p.Asp411His
XM_011530183.3:c.1213G>C	XP_011528485.1:p.Asp405His
XM_024452249.1:c.2419G>C	XP_024308017.1:p.Asp807His
XR_937863.2:n.2752G>C
NM_001670.3:c.2665G>C MANE Select	NP_001661.1:p.Asp889His