Canonical Allele Identifier: CA10104962

Gene: ARVCF

Linked Data

• dbSNP Id: rs781607527
• ExAC: 22:19959916 C / A
• gnomAD v2: 22-19959916-C-A
• gnomAD v4: 22-19972393-C-A
• MyVariant Identifiers: chr22:g.19959916C>A (hg19) ; chr22:g.19972393C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19972393C>A , CM000684.2:g.19972393C>A	GRCh38
NC_000022.10:g.19959916C>A , CM000684.1:g.19959916C>A	GRCh37
NC_000022.9:g.18339916C>A	NCBI36
NG_023326.1:g.49394G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263207.8:c.2660G>T MANE Select	ENSP00000263207.3:p.Ser887Ile
ENST00000263207.7:c.2660G>T	ENSP00000263207.3:p.Ser887Ile
ENST00000401994.5:c.2471G>T	ENSP00000384341.1:p.Ser824Ile
ENST00000406259.1:c.2642G>T	ENSP00000385444.1:p.Ser881Ile
ENST00000406522.5:c.2453G>T	ENSP00000384732.1:p.Ser818Ile
ENST00000495096.5:n.1582G>T
NM_001670.2:c.2660G>T	NP_001661.1:p.Ser887Ile
XM_005261242.1:c.2642G>T	XP_005261299.1:p.Ser881Ile
XM_005261243.3:c.2642G>T	XP_005261300.1:p.Ser881Ile
XM_005261244.3:c.2642G>T	XP_005261301.1:p.Ser881Ile
XM_006724243.1:c.2660G>T	XP_006724306.1:p.Ser887Ile
XM_006724245.2:c.2660G>T	XP_006724308.1:p.Ser887Ile
XM_006724246.2:c.2414G>T	XP_006724309.1:p.Ser805Ile
XM_006724247.2:c.2471G>T	XP_006724310.1:p.Ser824Ile
XM_006724248.2:c.2453G>T	XP_006724311.1:p.Ser818Ile
XM_011530179.1:c.2627G>T	XP_011528481.1:p.Ser876Ile
XM_011530180.1:c.2660G>T	XP_011528482.1:p.Ser887Ile
XM_011530182.1:c.1226G>T	XP_011528484.1:p.Ser409Ile
XM_011530183.1:c.1208G>T	XP_011528485.1:p.Ser403Ile
XR_937863.1:n.2747G>T
XR_937864.1:n.2747G>T
XM_005261242.3:c.2642G>T	XP_005261299.1:p.Ser881Ile
XM_005261243.4:c.2642G>T	XP_005261300.1:p.Ser881Ile
XM_005261244.4:c.2642G>T	XP_005261301.1:p.Ser881Ile
XM_006724243.3:c.2660G>T	XP_006724306.1:p.Ser887Ile
XM_006724245.3:c.2660G>T	XP_006724308.1:p.Ser887Ile
XM_006724246.4:c.2414G>T	XP_006724309.1:p.Ser805Ile
XM_006724247.4:c.2471G>T	XP_006724310.1:p.Ser824Ile
XM_006724248.4:c.2453G>T	XP_006724311.1:p.Ser818Ile
XM_011530179.3:c.2627G>T	XP_011528481.1:p.Ser876Ile
XM_011530182.3:c.1226G>T	XP_011528484.1:p.Ser409Ile
XM_011530183.3:c.1208G>T	XP_011528485.1:p.Ser403Ile
XM_024452249.1:c.2414G>T	XP_024308017.1:p.Ser805Ile
XR_937863.2:n.2747G>T
NM_001670.3:c.2660G>T MANE Select	NP_001661.1:p.Ser887Ile