Canonical Allele Identifier: CA457228077

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2755496
• ClinVar RCV Id: RCV003507094
• MyVariant Identifiers: chr7:g.117282530T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642476T>C , CM000669.2:g.117642476T>C	GRCh38
NC_000007.13:g.117282530T>C , CM000669.1:g.117282530T>C	GRCh37
NC_000007.12:g.117069766T>C	NCBI36
NG_016465.4:g.181693T>C , LRG_663:g.181693T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3556T>C	ENSP00000497673.2:p.Phe1186Leu
ENST00000647978.2:c.*3470T>C	ENSP00000497658.1:n.*3470T>C
ENST00000649781.2:c.3573T>C	ENSP00000497203.1:p.Thr1191=
ENST00000685018.2:c.3756T>C	ENSP00000510194.2:p.Thr1252=
ENST00000687278.2:c.*409T>C	ENSP00000509593.2:n.*409T>C
ENST00000699585.1:c.3556T>C	ENSP00000514456.1:p.Phe1186Leu
ENST00000699598.1:c.3756T>C	ENSP00000514467.1:p.Thr1252=
ENST00000699599.1:c.3756T>C	ENSP00000514468.1:p.Thr1252=
ENST00000699600.1:c.*417T>C	ENSP00000514469.1:n.*417T>C
ENST00000699601.1:c.*2131T>C	ENSP00000514470.1:n.*2131T>C
ENST00000699602.1:c.3750T>C	ENSP00000514471.1:p.Thr1250=
ENST00000699604.1:c.*3580T>C	ENSP00000514472.1:n.*3580T>C
ENST00000699605.1:c.3330T>C	ENSP00000514473.1:p.Thr1110=
ENST00000685018.1:c.504T>C	ENSP00000510194.1:p.Thr168=
ENST00000687278.1:c.1543T>C	ENSP00000509593.1:n.1543T>C
ENST00000689011.1:c.338T>C
ENST00000003084.11:c.3756T>C MANE Select	ENSP00000003084.6:p.Thr1252=
ENST00000647720.1:c.1206T>C
ENST00000649781.1:c.3573T>C	ENSP00000497203.1:p.Thr1191=
ENST00000003084.10:c.3756T>C	ENSP00000003084.6:p.Thr1252=
ENST00000426809.5:c.3666T>C	ENSP00000389119.1:p.Thr1222=
NM_000492.3:c.3756T>C , LRG_663t1:c.3756T>C	NP_000483.3:p.Thr1252=
XM_011515751.1:c.3846T>C	XP_011514053.1:p.Thr1282=
XM_011515752.1:c.3846T>C	XP_011514054.1:p.Thr1282=
XM_011515753.1:c.3513T>C	XP_011514055.1:p.Thr1171=
XM_011515754.1:c.3513T>C	XP_011514056.1:p.Thr1171=
NM_000492.4:c.3756T>C MANE Select	NP_000483.3:p.Thr1252=