Canonical Allele Identifier: CA164947526

Gene: CFTR

Linked Data

• dbSNP Id: rs201382911
• gnomAD v2: 7-117282531-T-C
• gnomAD v4: 7-117642477-T-C
• MyVariant Identifiers: chr7:g.117282531T>C (hg19) ; chr7:g.117642477T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642477T>C , CM000669.2:g.117642477T>C	GRCh38
NC_000007.13:g.117282531T>C , CM000669.1:g.117282531T>C	GRCh37
NC_000007.12:g.117069767T>C	NCBI36
NG_016465.4:g.181694T>C , LRG_663:g.181694T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3557T>C	ENSP00000497673.2:p.Phe1186Ser
ENST00000647978.2:c.*3471T>C	ENSP00000497658.1:n.*3471T>C
ENST00000649781.2:c.3574T>C	ENSP00000497203.1:p.Leu1192=
ENST00000685018.2:c.3757T>C	ENSP00000510194.2:p.Leu1253=
ENST00000687278.2:c.*410T>C	ENSP00000509593.2:n.*410T>C
ENST00000699585.1:c.3557T>C	ENSP00000514456.1:p.Phe1186Ser
ENST00000699598.1:c.3757T>C	ENSP00000514467.1:p.Leu1253=
ENST00000699599.1:c.3757T>C	ENSP00000514468.1:p.Leu1253=
ENST00000699600.1:c.*418T>C	ENSP00000514469.1:n.*418T>C
ENST00000699601.1:c.*2132T>C	ENSP00000514470.1:n.*2132T>C
ENST00000699602.1:c.3751T>C	ENSP00000514471.1:p.Leu1251=
ENST00000699604.1:c.*3581T>C	ENSP00000514472.1:n.*3581T>C
ENST00000699605.1:c.3331T>C	ENSP00000514473.1:p.Leu1111=
ENST00000685018.1:c.505T>C	ENSP00000510194.1:p.Leu169=
ENST00000687278.1:c.1544T>C	ENSP00000509593.1:n.1544T>C
ENST00000689011.1:c.339T>C
ENST00000003084.11:c.3757T>C MANE Select	ENSP00000003084.6:p.Leu1253=
ENST00000647720.1:c.1207T>C
ENST00000649781.1:c.3574T>C	ENSP00000497203.1:p.Leu1192=
ENST00000003084.10:c.3757T>C	ENSP00000003084.6:p.Leu1253=
ENST00000426809.5:c.3667T>C	ENSP00000389119.1:p.Leu1223=
NM_000492.3:c.3757T>C , LRG_663t1:c.3757T>C	NP_000483.3:p.Leu1253=
XM_011515751.1:c.3847T>C	XP_011514053.1:p.Leu1283=
XM_011515752.1:c.3847T>C	XP_011514054.1:p.Leu1283=
XM_011515753.1:c.3514T>C	XP_011514055.1:p.Leu1172=
XM_011515754.1:c.3514T>C	XP_011514056.1:p.Leu1172=
NM_000492.4:c.3757T>C MANE Select	NP_000483.3:p.Leu1253=