Canonical Allele Identifier: CA457228093
Gene: CFTR HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.117282545T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117642491T>C , CM000669.2:g.117642491T>C GRCh38
NC_000007.13:g.117282545T>C , CM000669.1:g.117282545T>C GRCh37
NC_000007.12:g.117069781T>C NCBI36
NG_016465.4:g.181708T>C , LRG_663:g.181708T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.3571T>C ENSP00000497673.2:p.Phe1191Leu
ENST00000647978.2:c.*3485T>C ENSP00000497658.1:n.*3485T>C
ENST00000649781.2:c.3588T>C ENSP00000497203.1:p.Phe1196=
ENST00000685018.2:c.3771T>C ENSP00000510194.2:p.Phe1257=
ENST00000687278.2:c.*424T>C ENSP00000509593.2:n.*424T>C
ENST00000699585.1:c.3571T>C ENSP00000514456.1:p.Phe1191Leu
ENST00000699598.1:c.3771T>C ENSP00000514467.1:p.Phe1257=
ENST00000699599.1:c.3771T>C ENSP00000514468.1:p.Phe1257=
ENST00000699600.1:c.*432T>C ENSP00000514469.1:n.*432T>C
ENST00000699601.1:c.*2146T>C ENSP00000514470.1:n.*2146T>C
ENST00000699602.1:c.3765T>C ENSP00000514471.1:p.Phe1255=
ENST00000699604.1:c.*3595T>C ENSP00000514472.1:n.*3595T>C
ENST00000699605.1:c.3345T>C ENSP00000514473.1:p.Phe1115=
ENST00000685018.1:c.519T>C ENSP00000510194.1:p.Phe173=
ENST00000687278.1:c.1558T>C ENSP00000509593.1:n.1558T>C
ENST00000689011.1:c.353T>C
ENST00000003084.11:c.3771T>C MANE Select ENSP00000003084.6:p.Phe1257=
ENST00000647720.1:c.1221T>C
ENST00000649781.1:c.3588T>C ENSP00000497203.1:p.Phe1196=
ENST00000003084.10:c.3771T>C ENSP00000003084.6:p.Phe1257=
ENST00000426809.5:c.3681T>C ENSP00000389119.1:p.Phe1227=
NM_000492.3:c.3771T>C , LRG_663t1:c.3771T>C NP_000483.3:p.Phe1257=
XM_011515751.1:c.3861T>C XP_011514053.1:p.Phe1287=
XM_011515752.1:c.3861T>C XP_011514054.1:p.Phe1287=
XM_011515753.1:c.3528T>C XP_011514055.1:p.Phe1176=
XM_011515754.1:c.3528T>C XP_011514056.1:p.Phe1176=
NM_000492.4:c.3771T>C MANE Select NP_000483.3:p.Phe1257=