Canonical Allele Identifier: CA368983696

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117305584G>C (hg19) ; chr7:g.117665530G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665530G>C , CM000669.2:g.117665530G>C	GRCh38
NC_000007.13:g.117305584G>C , CM000669.1:g.117305584G>C	GRCh37
NC_000007.12:g.117092820G>C	NCBI36
NG_016465.4:g.204747G>C , LRG_663:g.204747G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*417G>C	ENSP00000497673.2:n.*417G>C
ENST00000647978.2:c.*3922G>C	ENSP00000497658.1:n.*3922G>C
ENST00000649781.2:c.4025G>C	ENSP00000497203.1:p.Arg1342Thr
ENST00000685018.2:c.*421G>C	ENSP00000510194.2:n.*421G>C
ENST00000687278.2:c.*861G>C	ENSP00000509593.2:n.*861G>C
ENST00000699585.1:c.*417G>C	ENSP00000514456.1:n.*417G>C
ENST00000699598.1:c.4208G>C	ENSP00000514467.1:p.Arg1403Thr
ENST00000699599.1:c.*421G>C	ENSP00000514468.1:n.*421G>C
ENST00000699600.1:c.*869G>C	ENSP00000514469.1:n.*869G>C
ENST00000699601.1:c.*2583G>C	ENSP00000514470.1:n.*2583G>C
ENST00000699602.1:c.4202G>C	ENSP00000514471.1:p.Arg1401Thr
ENST00000699604.1:c.*4032G>C	ENSP00000514472.1:n.*4032G>C
ENST00000699605.1:c.3782G>C	ENSP00000514473.1:p.Arg1261Thr
ENST00000699606.1:n.2376G>C
ENST00000685018.1:c.1072G>C	ENSP00000510194.1:n.1072G>C
ENST00000687278.1:c.1995G>C	ENSP00000509593.1:n.1995G>C
ENST00000689011.1:c.790G>C
ENST00000003084.11:c.4208G>C MANE Select	ENSP00000003084.6:p.Arg1403Thr
ENST00000647720.1:c.1658G>C
ENST00000649781.1:c.4025G>C	ENSP00000497203.1:p.Arg1342Thr
ENST00000003084.10:c.4208G>C	ENSP00000003084.6:p.Arg1403Thr
ENST00000426809.5:c.4118G>C	ENSP00000389119.1:p.Arg1373Thr
ENST00000600166.1:c.334G>C
NM_000492.3:c.4208G>C , LRG_663t1:c.4208G>C	NP_000483.3:p.Arg1403Thr
XM_011515751.1:c.4298G>C	XP_011514053.1:p.Arg1433Thr
XM_011515752.1:c.4298G>C	XP_011514054.1:p.Arg1433Thr
XM_011515753.1:c.3965G>C	XP_011514055.1:p.Arg1322Thr
XM_011515754.1:c.3965G>C	XP_011514056.1:p.Arg1322Thr
NM_000492.4:c.4208G>C MANE Select	NP_000483.3:p.Arg1403Thr