Canonical Allele Identifier: CA6396197

Gene: FERRY3

Linked Data

• ClinVar Variation Id: 723335
• ClinVar RCV Id: RCV000897079
• dbSNP Id: rs143102907
• ExAC: 12:4626307 A / G
• gnomAD v2: 12-4626307-A-G
• gnomAD v3: 12-4517141-A-G
• gnomAD v4: 12-4517141-A-G
• MyVariant Identifiers: chr12:g.4626307A>G (hg19) ; chr12:g.4517141A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4517141A>G , CM000674.2:g.4517141A>G	GRCh38
NC_000012.11:g.4626307A>G , CM000674.1:g.4626307A>G	GRCh37
NC_000012.10:g.4496568A>G	NCBI36
NG_051648.1:g.26368T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261250.8:c.1082T>C MANE Select	ENSP00000261250.3:p.Ile361Thr
ENST00000261250.7:c.1082T>C	ENSP00000261250.3:p.Ile361Thr
ENST00000541014.5:c.563T>C	ENSP00000440820.1:p.Ile188Thr
ENST00000544697.1:c.*222T>C	ENSP00000439471.1:n.*222T>C
ENST00000545746.5:c.1082T>C	ENSP00000439996.1:p.Ile361Thr
NM_001304811.1:c.1082T>C	NP_001291740.1:p.Ile361Thr
NM_020374.3:c.1082T>C	NP_065107.1:p.Ile361Thr
XM_005253716.1:c.1033+917T>C	XP_005253773.1:n.1033+917T>C
XM_006718992.2:c.1082T>C	XP_006719055.1:p.Ile361Thr
XM_011520986.1:c.563T>C	XP_011519288.1:p.Ile188Thr
NM_001346153.1:c.1033+917T>C	NP_001333082.1:n.1033+917T>C
NM_001346155.1:c.1033+917T>C	NP_001333084.1:n.1033+917T>C
NM_001346156.1:c.563T>C	NP_001333085.1:p.Ile188Thr
NM_001346157.1:c.514+917T>C	NP_001333086.1:n.514+917T>C
NM_001352962.1:c.230T>C	NP_001339891.1:p.Ile77Thr
NR_144379.1:n.1100T>C
NR_144380.1:n.853+8113T>C
NR_144382.1:n.650+8113T>C
XM_006718992.3:c.1082T>C	XP_006719055.1:p.Ile361Thr
NM_020374.4:c.1082T>C MANE Select	NP_065107.1:p.Ile361Thr
NM_001304811.2:c.1082T>C	NP_001291740.1:p.Ile361Thr
NM_001346153.2:c.1033+917T>C	NP_001333082.1:n.1033+917T>C
NM_001346155.2:c.1033+917T>C	NP_001333084.1:n.1033+917T>C
NM_001346156.2:c.563T>C	NP_001333085.1:p.Ile188Thr
NM_001346157.2:c.514+917T>C	NP_001333086.1:n.514+917T>C
NM_001352962.2:c.230T>C	NP_001339891.1:p.Ile77Thr
NR_144379.2:n.1061T>C
NR_144380.2:n.814+8113T>C
NR_144382.2:n.611+8113T>C