Canonical Allele Identifier: CA368997292

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117267745A>T (hg19) ; chr7:g.117627691A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627691A>T , CM000669.2:g.117627691A>T	GRCh38
NC_000007.13:g.117267745A>T , CM000669.1:g.117267745A>T	GRCh37
NC_000007.12:g.117054981A>T	NCBI36
NG_016465.4:g.166908A>T , LRG_663:g.166908A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3517+121A>T	ENSP00000497673.2:n.3517+121A>T
ENST00000647978.2:c.*3352A>T	ENSP00000497658.1:n.*3352A>T
ENST00000649781.2:c.3455A>T	ENSP00000497203.1:p.Lys1152Ile
ENST00000685018.2:c.3638A>T	ENSP00000510194.2:p.Lys1213Ile
ENST00000687278.2:c.*291A>T	ENSP00000509593.2:n.*291A>T
ENST00000699585.1:c.3517+121A>T	ENSP00000514456.1:n.3517+121A>T
ENST00000699598.1:c.3638A>T	ENSP00000514467.1:p.Lys1213Ile
ENST00000699599.1:c.3638A>T	ENSP00000514468.1:p.Lys1213Ile
ENST00000699600.1:c.*299A>T	ENSP00000514469.1:n.*299A>T
ENST00000699601.1:c.*2013A>T	ENSP00000514470.1:n.*2013A>T
ENST00000699602.1:c.3632A>T	ENSP00000514471.1:p.Lys1211Ile
ENST00000699604.1:c.*3462A>T	ENSP00000514472.1:n.*3462A>T
ENST00000699605.1:c.3212A>T	ENSP00000514473.1:p.Lys1071Ile
ENST00000685018.1:c.386A>T	ENSP00000510194.1:p.Lys129Ile
ENST00000687278.1:c.1425A>T	ENSP00000509593.1:n.1425A>T
ENST00000689011.1:c.220A>T
ENST00000003084.11:c.3638A>T MANE Select	ENSP00000003084.6:p.Lys1213Ile
ENST00000647720.1:c.1167+121A>T
ENST00000648260.1:c.2420A>T	ENSP00000497957.1:p.Lys807Ile
ENST00000649406.1:c.3455A>T	ENSP00000497965.1:p.Lys1152Ile
ENST00000649781.1:c.3455A>T	ENSP00000497203.1:p.Lys1152Ile
ENST00000003084.10:c.3638A>T	ENSP00000003084.6:p.Lys1213Ile
ENST00000426809.5:c.3548A>T	ENSP00000389119.1:p.Lys1183Ile
ENST00000468795.1:c.463A>T
NM_000492.3:c.3638A>T , LRG_663t1:c.3638A>T	NP_000483.3:p.Lys1213Ile
XM_011515751.1:c.3728A>T	XP_011514053.1:p.Lys1243Ile
XM_011515752.1:c.3728A>T	XP_011514054.1:p.Lys1243Ile
XM_011515753.1:c.3395A>T	XP_011514055.1:p.Lys1132Ile
XM_011515754.1:c.3395A>T	XP_011514056.1:p.Lys1132Ile
NM_000492.4:c.3638A>T MANE Select	NP_000483.3:p.Lys1213Ile