Canonical Allele Identifier: CA368997168

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117267717T>C (hg19) ; chr7:g.117627663T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627663T>C , CM000669.2:g.117627663T>C	GRCh38
NC_000007.13:g.117267717T>C , CM000669.1:g.117267717T>C	GRCh37
NC_000007.12:g.117054953T>C	NCBI36
NG_016465.4:g.166880T>C , LRG_663:g.166880T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3517+93T>C	ENSP00000497673.2:n.3517+93T>C
ENST00000647978.2:c.*3324T>C	ENSP00000497658.1:n.*3324T>C
ENST00000649781.2:c.3427T>C	ENSP00000497203.1:p.Trp1143Arg
ENST00000685018.2:c.3610T>C	ENSP00000510194.2:p.Trp1204Arg
ENST00000687278.2:c.*263T>C	ENSP00000509593.2:n.*263T>C
ENST00000699585.1:c.3517+93T>C	ENSP00000514456.1:n.3517+93T>C
ENST00000699598.1:c.3610T>C	ENSP00000514467.1:p.Trp1204Arg
ENST00000699599.1:c.3610T>C	ENSP00000514468.1:p.Trp1204Arg
ENST00000699600.1:c.*271T>C	ENSP00000514469.1:n.*271T>C
ENST00000699601.1:c.*1985T>C	ENSP00000514470.1:n.*1985T>C
ENST00000699602.1:c.3604T>C	ENSP00000514471.1:p.Trp1202Arg
ENST00000699604.1:c.*3434T>C	ENSP00000514472.1:n.*3434T>C
ENST00000699605.1:c.3184T>C	ENSP00000514473.1:p.Trp1062Arg
ENST00000685018.1:c.358T>C	ENSP00000510194.1:p.Trp120Arg
ENST00000687278.1:c.1397T>C	ENSP00000509593.1:n.1397T>C
ENST00000689011.1:c.192T>C
ENST00000003084.11:c.3610T>C MANE Select	ENSP00000003084.6:p.Trp1204Arg
ENST00000647720.1:c.1167+93T>C
ENST00000648260.1:c.2392T>C	ENSP00000497957.1:p.Trp798Arg
ENST00000649406.1:c.3427T>C	ENSP00000497965.1:p.Trp1143Arg
ENST00000649781.1:c.3427T>C	ENSP00000497203.1:p.Trp1143Arg
ENST00000003084.10:c.3610T>C	ENSP00000003084.6:p.Trp1204Arg
ENST00000426809.5:c.3520T>C	ENSP00000389119.1:p.Trp1174Arg
ENST00000468795.1:c.435T>C
NM_000492.3:c.3610T>C , LRG_663t1:c.3610T>C	NP_000483.3:p.Trp1204Arg
XM_011515751.1:c.3700T>C	XP_011514053.1:p.Trp1234Arg
XM_011515752.1:c.3700T>C	XP_011514054.1:p.Trp1234Arg
XM_011515753.1:c.3367T>C	XP_011514055.1:p.Trp1123Arg
XM_011515754.1:c.3367T>C	XP_011514056.1:p.Trp1123Arg
NM_000492.4:c.3610T>C MANE Select	NP_000483.3:p.Trp1204Arg