Canonical Allele Identifier: CA368983845

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117305618G>T (hg19) ; chr7:g.117665564G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665564G>T , CM000669.2:g.117665564G>T	GRCh38
NC_000007.13:g.117305618G>T , CM000669.1:g.117305618G>T	GRCh37
NC_000007.12:g.117092854G>T	NCBI36
NG_016465.4:g.204781G>T , LRG_663:g.204781G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*451G>T	ENSP00000497673.2:n.*451G>T
ENST00000647978.2:c.*3956G>T	ENSP00000497658.1:n.*3956G>T
ENST00000649781.2:c.4059G>T	ENSP00000497203.1:p.Leu1353Phe
ENST00000685018.2:c.*455G>T	ENSP00000510194.2:n.*455G>T
ENST00000687278.2:c.*895G>T	ENSP00000509593.2:n.*895G>T
ENST00000699585.1:c.*451G>T	ENSP00000514456.1:n.*451G>T
ENST00000699598.1:c.4242G>T	ENSP00000514467.1:p.Leu1414Phe
ENST00000699599.1:c.*455G>T	ENSP00000514468.1:n.*455G>T
ENST00000699600.1:c.*903G>T	ENSP00000514469.1:n.*903G>T
ENST00000699601.1:c.*2617G>T	ENSP00000514470.1:n.*2617G>T
ENST00000699602.1:c.4236G>T	ENSP00000514471.1:p.Leu1412Phe
ENST00000699604.1:c.*4066G>T	ENSP00000514472.1:n.*4066G>T
ENST00000699605.1:c.3816G>T	ENSP00000514473.1:p.Leu1272Phe
ENST00000699606.1:n.2410G>T
ENST00000685018.1:c.1106G>T	ENSP00000510194.1:n.1106G>T
ENST00000687278.1:c.2029G>T	ENSP00000509593.1:n.2029G>T
ENST00000689011.1:c.824G>T
ENST00000003084.11:c.4242G>T MANE Select	ENSP00000003084.6:p.Leu1414Phe
ENST00000647720.1:c.1692G>T
ENST00000649781.1:c.4059G>T	ENSP00000497203.1:p.Leu1353Phe
ENST00000003084.10:c.4242G>T	ENSP00000003084.6:p.Leu1414Phe
ENST00000426809.5:c.4152G>T	ENSP00000389119.1:p.Leu1384Phe
ENST00000600166.1:c.368G>T
NM_000492.3:c.4242G>T , LRG_663t1:c.4242G>T	NP_000483.3:p.Leu1414Phe
XM_011515751.1:c.4332G>T	XP_011514053.1:p.Leu1444Phe
XM_011515752.1:c.4332G>T	XP_011514054.1:p.Leu1444Phe
XM_011515753.1:c.3999G>T	XP_011514055.1:p.Leu1333Phe
XM_011515754.1:c.3999G>T	XP_011514056.1:p.Leu1333Phe
NM_000492.4:c.4242G>T MANE Select	NP_000483.3:p.Leu1414Phe