Canonical Allele Identifier: CA342837

Gene: CFTR

Linked Data

• ClinVar Variation Id: 35836
• ClinVar RCV Id: RCV000029491 ; RCV001004281 ; RCV001027915 ; RCV003473131 ; RCV001530162
• dbSNP Id: rs121908812
• ExAC: 7:117232231 AT / A
• gnomAD v2: 7-117232231-AT-A
• gnomAD v3: 7-117592177-AT-A
• gnomAD v4: 7-117592177-AT-A
• MyVariant Identifiers: chr7:g.117232233del (hg19) ; chr7:g.117232232del (hg19) ; chr7:g.117592179del (hg38) ; chr7:g.117592178del (hg38)
• PubMed: PMID:18456578 ; PMID:23974870

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592179del , CM000669.2:g.117592179del	GRCh38
NC_000007.13:g.117232233del , CM000669.1:g.117232233del	GRCh37
NC_000007.12:g.117019469del	NCBI36
NG_016465.4:g.131396del , LRG_663:g.131396del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2012del	ENSP00000497673.2:p.Leu671Ter
ENST00000647978.2:c.*1726del	ENSP00000497658.1:n.*1726del
ENST00000649781.2:c.1829del	ENSP00000497203.1:p.Leu610Ter
ENST00000685018.2:c.2012del	ENSP00000510194.2:p.Leu671Ter
ENST00000687278.2:c.2012del	ENSP00000509593.2:p.Leu671Ter
ENST00000699585.1:c.2012del	ENSP00000514456.1:p.Leu671Ter
ENST00000699598.1:c.2012del	ENSP00000514467.1:p.Leu671Ter
ENST00000699599.1:c.2012del	ENSP00000514468.1:p.Leu671Ter
ENST00000699600.1:c.2012del	ENSP00000514469.1:p.Leu671Ter
ENST00000699601.1:c.*312del	ENSP00000514470.1:n.*312del
ENST00000699602.1:c.2012del	ENSP00000514471.1:p.Leu671Ter
ENST00000699604.1:c.*1836del	ENSP00000514472.1:n.*1836del
ENST00000699605.1:c.1586del	ENSP00000514473.1:p.Leu529Ter
ENST00000003084.11:c.2012del MANE Select	ENSP00000003084.6:p.Leu671Ter
ENST00000647978.1:c.*1726del	ENSP00000497658.1:n.*1726del
ENST00000648260.1:c.1402-10647del	ENSP00000497957.1:n.1402-10647del
ENST00000649406.1:c.1829del	ENSP00000497965.1:p.Leu610Ter
ENST00000649781.1:c.1829del	ENSP00000497203.1:p.Leu610Ter
ENST00000003084.10:c.2012del	ENSP00000003084.6:p.Leu671Ter
ENST00000426809.5:c.1922del	ENSP00000389119.1:p.Leu641Ter
NM_000492.3:c.2012del , LRG_663t1:c.2012del	NP_000483.3:p.Leu671Ter
XM_011515751.1:c.2102del	XP_011514053.1:p.Leu701Ter
XM_011515752.1:c.2102del	XP_011514054.1:p.Leu701Ter
XM_011515753.1:c.1769del	XP_011514055.1:p.Leu590Ter
XM_011515754.1:c.1769del	XP_011514056.1:p.Leu590Ter
NM_000492.4:c.2012del MANE Select	NP_000483.3:p.Leu671Ter