Canonical Allele Identifier: CA368985154

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117307088A>T (hg19) ; chr7:g.117667034A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117667034A>T , CM000669.2:g.117667034A>T	GRCh38
NC_000007.13:g.117307088A>T , CM000669.1:g.117307088A>T	GRCh37
NC_000007.12:g.117094324A>T	NCBI36
NG_016465.4:g.206251A>T , LRG_663:g.206251A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*578A>T	ENSP00000497673.2:n.*578A>T
ENST00000647978.2:c.*4083A>T	ENSP00000497658.1:n.*4083A>T
ENST00000649781.2:c.4186A>T	ENSP00000497203.1:p.Lys1396Ter
ENST00000685018.2:c.*582A>T	ENSP00000510194.2:n.*582A>T
ENST00000687278.2:c.*896-568A>T	ENSP00000509593.2:n.*896-568A>T
ENST00000699585.1:c.*838A>T	ENSP00000514456.1:n.*838A>T
ENST00000699598.1:c.*75A>T	ENSP00000514467.1:n.*75A>T
ENST00000699599.1:c.*582A>T	ENSP00000514468.1:n.*582A>T
ENST00000699600.1:c.*904-568A>T	ENSP00000514469.1:n.*904-568A>T
ENST00000699601.1:c.*2744A>T	ENSP00000514470.1:n.*2744A>T
ENST00000699602.1:c.4363A>T	ENSP00000514471.1:p.Lys1455Ter
ENST00000699604.1:c.*4193A>T	ENSP00000514472.1:n.*4193A>T
ENST00000699605.1:c.3943A>T	ENSP00000514473.1:p.Lys1315Ter
ENST00000699606.1:n.3880A>T
ENST00000685018.1:c.1233A>T	ENSP00000510194.1:n.1233A>T
ENST00000687278.1:c.2030-568A>T	ENSP00000509593.1:n.2030-568A>T
ENST00000689011.1:c.1211A>T
ENST00000003084.11:c.4369A>T MANE Select	ENSP00000003084.6:p.Lys1457Ter
ENST00000647720.1:c.1819A>T
ENST00000649781.1:c.4186A>T	ENSP00000497203.1:p.Lys1396Ter
ENST00000003084.10:c.4369A>T	ENSP00000003084.6:p.Lys1457Ter
ENST00000426809.5:c.4279A>T	ENSP00000389119.1:p.Lys1427Ter
ENST00000600166.1:c.368+1470A>T
NM_000492.3:c.4369A>T , LRG_663t1:c.4369A>T	NP_000483.3:p.Lys1457Ter
XM_011515751.1:c.4459A>T	XP_011514053.1:p.Lys1487Ter
XM_011515753.1:c.4126A>T	XP_011514055.1:p.Lys1376Ter
XM_011515754.1:c.4126A>T	XP_011514056.1:p.Lys1376Ter
NM_000492.4:c.4369A>T MANE Select	NP_000483.3:p.Lys1457Ter