Canonical Allele Identifier: CA368997194

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117267721C>T (hg19) ; chr7:g.117627667C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627667C>T , CM000669.2:g.117627667C>T	GRCh38
NC_000007.13:g.117267721C>T , CM000669.1:g.117267721C>T	GRCh37
NC_000007.12:g.117054957C>T	NCBI36
NG_016465.4:g.166884C>T , LRG_663:g.166884C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3517+97C>T	ENSP00000497673.2:n.3517+97C>T
ENST00000647978.2:c.*3328C>T	ENSP00000497658.1:n.*3328C>T
ENST00000649781.2:c.3431C>T	ENSP00000497203.1:p.Pro1144Leu
ENST00000685018.2:c.3614C>T	ENSP00000510194.2:p.Pro1205Leu
ENST00000687278.2:c.*267C>T	ENSP00000509593.2:n.*267C>T
ENST00000699585.1:c.3517+97C>T	ENSP00000514456.1:n.3517+97C>T
ENST00000699598.1:c.3614C>T	ENSP00000514467.1:p.Pro1205Leu
ENST00000699599.1:c.3614C>T	ENSP00000514468.1:p.Pro1205Leu
ENST00000699600.1:c.*275C>T	ENSP00000514469.1:n.*275C>T
ENST00000699601.1:c.*1989C>T	ENSP00000514470.1:n.*1989C>T
ENST00000699602.1:c.3608C>T	ENSP00000514471.1:p.Pro1203Leu
ENST00000699604.1:c.*3438C>T	ENSP00000514472.1:n.*3438C>T
ENST00000699605.1:c.3188C>T	ENSP00000514473.1:p.Pro1063Leu
ENST00000685018.1:c.362C>T	ENSP00000510194.1:p.Pro121Leu
ENST00000687278.1:c.1401C>T	ENSP00000509593.1:n.1401C>T
ENST00000689011.1:c.196C>T
ENST00000003084.11:c.3614C>T MANE Select	ENSP00000003084.6:p.Pro1205Leu
ENST00000647720.1:c.1167+97C>T
ENST00000648260.1:c.2396C>T	ENSP00000497957.1:p.Pro799Leu
ENST00000649406.1:c.3431C>T	ENSP00000497965.1:p.Pro1144Leu
ENST00000649781.1:c.3431C>T	ENSP00000497203.1:p.Pro1144Leu
ENST00000003084.10:c.3614C>T	ENSP00000003084.6:p.Pro1205Leu
ENST00000426809.5:c.3524C>T	ENSP00000389119.1:p.Pro1175Leu
ENST00000468795.1:c.439C>T
NM_000492.3:c.3614C>T , LRG_663t1:c.3614C>T	NP_000483.3:p.Pro1205Leu
XM_011515751.1:c.3704C>T	XP_011514053.1:p.Pro1235Leu
XM_011515752.1:c.3704C>T	XP_011514054.1:p.Pro1235Leu
XM_011515753.1:c.3371C>T	XP_011514055.1:p.Pro1124Leu
XM_011515754.1:c.3371C>T	XP_011514056.1:p.Pro1124Leu
NM_000492.4:c.3614C>T MANE Select	NP_000483.3:p.Pro1205Leu