Canonical Allele Identifier: CA368996106

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117267607T>C (hg19) ; chr7:g.117627553T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627553T>C , CM000669.2:g.117627553T>C	GRCh38
NC_000007.13:g.117267607T>C , CM000669.1:g.117267607T>C	GRCh37
NC_000007.12:g.117054843T>C	NCBI36
NG_016465.4:g.166770T>C , LRG_663:g.166770T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3500T>C	ENSP00000497673.2:p.Ile1167Thr
ENST00000647978.2:c.*3214T>C	ENSP00000497658.1:n.*3214T>C
ENST00000649781.2:c.3317T>C	ENSP00000497203.1:p.Ile1106Thr
ENST00000685018.2:c.3500T>C	ENSP00000510194.2:p.Ile1167Thr
ENST00000687278.2:c.*153T>C	ENSP00000509593.2:n.*153T>C
ENST00000699585.1:c.3500T>C	ENSP00000514456.1:p.Ile1167Thr
ENST00000699598.1:c.3500T>C	ENSP00000514467.1:p.Ile1167Thr
ENST00000699599.1:c.3500T>C	ENSP00000514468.1:p.Ile1167Thr
ENST00000699600.1:c.*161T>C	ENSP00000514469.1:n.*161T>C
ENST00000699601.1:c.*1875T>C	ENSP00000514470.1:n.*1875T>C
ENST00000699602.1:c.3494T>C	ENSP00000514471.1:p.Ile1165Thr
ENST00000699604.1:c.*3324T>C	ENSP00000514472.1:n.*3324T>C
ENST00000699605.1:c.3074T>C	ENSP00000514473.1:p.Ile1025Thr
ENST00000685018.1:c.248T>C	ENSP00000510194.1:p.Ile83Thr
ENST00000687278.1:c.1287T>C	ENSP00000509593.1:n.1287T>C
ENST00000689011.1:c.82T>C
ENST00000003084.11:c.3500T>C MANE Select	ENSP00000003084.6:p.Ile1167Thr
ENST00000647720.1:c.1150T>C
ENST00000648260.1:c.2282T>C	ENSP00000497957.1:p.Ile761Thr
ENST00000649406.1:c.3317T>C	ENSP00000497965.1:p.Ile1106Thr
ENST00000649781.1:c.3317T>C	ENSP00000497203.1:p.Ile1106Thr
ENST00000003084.10:c.3500T>C	ENSP00000003084.6:p.Ile1167Thr
ENST00000426809.5:c.3410T>C	ENSP00000389119.1:p.Ile1137Thr
ENST00000468795.1:c.325T>C
NM_000492.3:c.3500T>C , LRG_663t1:c.3500T>C	NP_000483.3:p.Ile1167Thr
XM_011515751.1:c.3590T>C	XP_011514053.1:p.Ile1197Thr
XM_011515752.1:c.3590T>C	XP_011514054.1:p.Ile1197Thr
XM_011515753.1:c.3257T>C	XP_011514055.1:p.Ile1086Thr
XM_011515754.1:c.3257T>C	XP_011514056.1:p.Ile1086Thr
NM_000492.4:c.3500T>C MANE Select	NP_000483.3:p.Ile1167Thr