Canonical Allele Identifier: CA325596

Gene: CFTR

Linked Data

• ClinVar Variation Id: 7208
• ClinVar RCV Id: RCV000007629 ; RCV000311326 ; RCV001004297 ; RCV001831550
• dbSNP Id: rs121909036
• gnomAD v4: 7-117611635-T-C
• MyVariant Identifiers: chr7:g.117251689T>C (hg19) ; chr7:g.117611635T>C (hg38)
• PubMed: PMID:7522211 ; PMID:23891399 ; PMID:23974870

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117611635T>C , CM000669.2:g.117611635T>C	GRCh38
NC_000007.13:g.117251689T>C , CM000669.1:g.117251689T>C	GRCh37
NC_000007.12:g.117038925T>C	NCBI36
NG_016465.4:g.150852T>C , LRG_663:g.150852T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3194T>C	ENSP00000497673.2:p.Leu1065Pro
ENST00000647978.2:c.*2908T>C	ENSP00000497658.1:n.*2908T>C
ENST00000649781.2:c.3011T>C	ENSP00000497203.1:p.Leu1004Pro
ENST00000685018.2:c.3194T>C	ENSP00000510194.2:p.Leu1065Pro
ENST00000687278.2:c.3194T>C	ENSP00000509593.2:p.Leu1065Pro
ENST00000699585.1:c.3194T>C	ENSP00000514456.1:p.Leu1065Pro
ENST00000699598.1:c.3194T>C	ENSP00000514467.1:p.Leu1065Pro
ENST00000699599.1:c.3194T>C	ENSP00000514468.1:p.Leu1065Pro
ENST00000699600.1:c.3194T>C	ENSP00000514469.1:p.Leu1065Pro
ENST00000699601.1:c.*1494T>C	ENSP00000514470.1:n.*1494T>C
ENST00000699602.1:c.3194T>C	ENSP00000514471.1:p.Leu1065Pro
ENST00000699604.1:c.*3018T>C	ENSP00000514472.1:n.*3018T>C
ENST00000699605.1:c.2768T>C	ENSP00000514473.1:p.Leu923Pro
ENST00000687278.1:c.785T>C	ENSP00000509593.1:p.Leu262Pro
ENST00000003084.11:c.3194T>C MANE Select	ENSP00000003084.6:p.Leu1065Pro
ENST00000647720.1:c.844T>C
ENST00000648260.1:c.1976T>C	ENSP00000497957.1:p.Leu659Pro
ENST00000649406.1:c.3011T>C	ENSP00000497965.1:p.Leu1004Pro
ENST00000649781.1:c.3011T>C	ENSP00000497203.1:p.Leu1004Pro
ENST00000003084.10:c.3194T>C	ENSP00000003084.6:p.Leu1065Pro
ENST00000426809.5:c.3104T>C	ENSP00000389119.1:p.Leu1035Pro
ENST00000468795.1:c.19T>C
NM_000492.3:c.3194T>C , LRG_663t1:c.3194T>C	NP_000483.3:p.Leu1065Pro
XM_011515751.1:c.3284T>C	XP_011514053.1:p.Leu1095Pro
XM_011515752.1:c.3284T>C	XP_011514054.1:p.Leu1095Pro
XM_011515753.1:c.2951T>C	XP_011514055.1:p.Leu984Pro
XM_011515754.1:c.2951T>C	XP_011514056.1:p.Leu984Pro
NM_000492.4:c.3194T>C MANE Select	NP_000483.3:p.Leu1065Pro