Canonical Allele Identifier: CA368972271

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117149171T>C (hg19) ; chr7:g.117509117T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117509117T>C , CM000669.2:g.117509117T>C	GRCh38
NC_000007.13:g.117149171T>C , CM000669.1:g.117149171T>C	GRCh37
NC_000007.12:g.116936407T>C	NCBI36
NG_016465.4:g.48334T>C , LRG_663:g.48334T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.248T>C	ENSP00000497673.2:p.Phe83Ser
ENST00000647978.2:c.*145T>C	ENSP00000497658.1:n.*145T>C
ENST00000649781.2:c.248T>C	ENSP00000497203.1:p.Phe83Ser
ENST00000649850.2:c.*145T>C	ENSP00000514457.1:n.*145T>C
ENST00000685018.2:c.248T>C	ENSP00000510194.2:p.Phe83Ser
ENST00000687278.2:c.248T>C	ENSP00000509593.2:p.Phe83Ser
ENST00000699585.1:c.248T>C	ENSP00000514456.1:p.Phe83Ser
ENST00000699596.1:c.248T>C	ENSP00000514465.1:p.Phe83Ser
ENST00000699597.1:c.248T>C	ENSP00000514466.1:p.Phe83Ser
ENST00000699598.1:c.248T>C	ENSP00000514467.1:p.Phe83Ser
ENST00000699599.1:c.248T>C	ENSP00000514468.1:p.Phe83Ser
ENST00000699600.1:c.248T>C	ENSP00000514469.1:p.Phe83Ser
ENST00000699601.1:c.248T>C	ENSP00000514470.1:p.Phe83Ser
ENST00000699602.1:c.248T>C	ENSP00000514471.1:p.Phe83Ser
ENST00000699604.1:c.*72T>C	ENSP00000514472.1:n.*72T>C
ENST00000699605.1:c.5T>C	ENSP00000514473.1:p.Phe2Ser
ENST00000446805.2:c.5T>C	ENSP00000417012.1:p.Phe2Ser
ENST00000003084.11:c.248T>C MANE Select	ENSP00000003084.6:p.Phe83Ser
ENST00000647639.1:n.332T>C
ENST00000647978.1:c.*145T>C	ENSP00000497658.1:n.*145T>C
ENST00000648260.1:c.248T>C	ENSP00000497957.1:p.Phe83Ser
ENST00000649406.1:c.248T>C	ENSP00000497965.1:p.Phe83Ser
ENST00000649781.1:c.248T>C	ENSP00000497203.1:p.Phe83Ser
ENST00000649850.1:n.405T>C
ENST00000673785.1:c.5T>C	ENSP00000501235.1:p.Phe2Ser
ENST00000003084.10:c.248T>C	ENSP00000003084.6:p.Phe83Ser
ENST00000426809.5:c.248T>C	ENSP00000389119.1:p.Phe83Ser
ENST00000446805.1:c.5T>C	ENSP00000417012.1:p.Phe2Ser
NM_000492.3:c.248T>C , LRG_663t1:c.248T>C	NP_000483.3:p.Phe83Ser
XM_011515751.1:c.338T>C	XP_011514053.1:p.Phe113Ser
XM_011515752.1:c.338T>C	XP_011514054.1:p.Phe113Ser
XM_011515753.1:c.5T>C	XP_011514055.1:p.Phe2Ser
XM_011515754.1:c.5T>C	XP_011514056.1:p.Phe2Ser
NM_000492.4:c.248T>C MANE Select	NP_000483.3:p.Phe83Ser