Canonical Allele Identifier: CA368974451

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282503G>T (hg19) ; chr7:g.117642449G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642449G>T , CM000669.2:g.117642449G>T	GRCh38
NC_000007.13:g.117282503G>T , CM000669.1:g.117282503G>T	GRCh37
NC_000007.12:g.117069739G>T	NCBI36
NG_016465.4:g.181666G>T , LRG_663:g.181666G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3529G>T	ENSP00000497673.2:p.Gly1177Trp
ENST00000647978.2:c.*3443G>T	ENSP00000497658.1:n.*3443G>T
ENST00000649781.2:c.3546G>T	ENSP00000497203.1:p.Leu1182Phe
ENST00000685018.2:c.3729G>T	ENSP00000510194.2:p.Leu1243Phe
ENST00000687278.2:c.*382G>T	ENSP00000509593.2:n.*382G>T
ENST00000699585.1:c.3529G>T	ENSP00000514456.1:p.Gly1177Trp
ENST00000699598.1:c.3729G>T	ENSP00000514467.1:p.Leu1243Phe
ENST00000699599.1:c.3729G>T	ENSP00000514468.1:p.Leu1243Phe
ENST00000699600.1:c.*390G>T	ENSP00000514469.1:n.*390G>T
ENST00000699601.1:c.*2104G>T	ENSP00000514470.1:n.*2104G>T
ENST00000699602.1:c.3723G>T	ENSP00000514471.1:p.Leu1241Phe
ENST00000699604.1:c.*3553G>T	ENSP00000514472.1:n.*3553G>T
ENST00000699605.1:c.3303G>T	ENSP00000514473.1:p.Leu1101Phe
ENST00000685018.1:c.477G>T	ENSP00000510194.1:p.Leu159Phe
ENST00000687278.1:c.1516G>T	ENSP00000509593.1:n.1516G>T
ENST00000689011.1:c.311G>T
ENST00000003084.11:c.3729G>T MANE Select	ENSP00000003084.6:p.Leu1243Phe
ENST00000647720.1:c.1179G>T
ENST00000649781.1:c.3546G>T	ENSP00000497203.1:p.Leu1182Phe
ENST00000003084.10:c.3729G>T	ENSP00000003084.6:p.Leu1243Phe
ENST00000426809.5:c.3639G>T	ENSP00000389119.1:p.Leu1213Phe
NM_000492.3:c.3729G>T , LRG_663t1:c.3729G>T	NP_000483.3:p.Leu1243Phe
XM_011515751.1:c.3819G>T	XP_011514053.1:p.Leu1273Phe
XM_011515752.1:c.3819G>T	XP_011514054.1:p.Leu1273Phe
XM_011515753.1:c.3486G>T	XP_011514055.1:p.Leu1162Phe
XM_011515754.1:c.3486G>T	XP_011514056.1:p.Leu1162Phe
NM_000492.4:c.3729G>T MANE Select	NP_000483.3:p.Leu1243Phe