Canonical Allele Identifier: CA368992589

Gene: CFTR

Linked Data

• dbSNP Id: rs1200739289
• gnomAD v3: 7-117611785-C-A
• gnomAD v4: 7-117611785-C-A
• MyVariant Identifiers: chr7:g.117251839C>A (hg19) ; chr7:g.117611785C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117611785C>A , CM000669.2:g.117611785C>A	GRCh38
NC_000007.13:g.117251839C>A , CM000669.1:g.117251839C>A	GRCh37
NC_000007.12:g.117039075C>A	NCBI36
NG_016465.4:g.151002C>A , LRG_663:g.151002C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3344C>A	ENSP00000497673.2:p.Thr1115Asn
ENST00000647978.2:c.*3058C>A	ENSP00000497658.1:n.*3058C>A
ENST00000649781.2:c.3161C>A	ENSP00000497203.1:p.Thr1054Asn
ENST00000685018.2:c.3344C>A	ENSP00000510194.2:p.Thr1115Asn
ENST00000687278.2:c.3344C>A	ENSP00000509593.2:p.Thr1115Asn
ENST00000699585.1:c.3344C>A	ENSP00000514456.1:p.Thr1115Asn
ENST00000699598.1:c.3344C>A	ENSP00000514467.1:p.Thr1115Asn
ENST00000699599.1:c.3344C>A	ENSP00000514468.1:p.Thr1115Asn
ENST00000699600.1:c.3344C>A	ENSP00000514469.1:p.Thr1115Asn
ENST00000699601.1:c.*1644C>A	ENSP00000514470.1:n.*1644C>A
ENST00000699602.1:c.3344C>A	ENSP00000514471.1:p.Thr1115Asn
ENST00000699604.1:c.*3168C>A	ENSP00000514472.1:n.*3168C>A
ENST00000699605.1:c.2918C>A	ENSP00000514473.1:p.Thr973Asn
ENST00000685018.1:c.92C>A	ENSP00000510194.1:p.Thr31Asn
ENST00000687278.1:c.935C>A	ENSP00000509593.1:p.Thr312Asn
ENST00000003084.11:c.3344C>A MANE Select	ENSP00000003084.6:p.Thr1115Asn
ENST00000647720.1:c.994C>A
ENST00000648260.1:c.2126C>A	ENSP00000497957.1:p.Thr709Asn
ENST00000649406.1:c.3161C>A	ENSP00000497965.1:p.Thr1054Asn
ENST00000649781.1:c.3161C>A	ENSP00000497203.1:p.Thr1054Asn
ENST00000003084.10:c.3344C>A	ENSP00000003084.6:p.Thr1115Asn
ENST00000426809.5:c.3254C>A	ENSP00000389119.1:p.Thr1085Asn
ENST00000468795.1:c.169C>A
NM_000492.3:c.3344C>A , LRG_663t1:c.3344C>A	NP_000483.3:p.Thr1115Asn
XM_011515751.1:c.3434C>A	XP_011514053.1:p.Thr1145Asn
XM_011515752.1:c.3434C>A	XP_011514054.1:p.Thr1145Asn
XM_011515753.1:c.3101C>A	XP_011514055.1:p.Thr1034Asn
XM_011515754.1:c.3101C>A	XP_011514056.1:p.Thr1034Asn
NM_000492.4:c.3344C>A MANE Select	NP_000483.3:p.Thr1115Asn