Canonical Allele Identifier: CA1737384078
Community Standard Title: NM_000492.4(CFTR):c.1400T= (p.Leu467=)
Gene: CFTR HGNC NCBI
CFTR-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117559471T= , CM000669.2:g.117559471T= GRCh38
NC_000007.13:g.117199525T= , CM000669.1:g.117199525T= GRCh37
NC_000007.12:g.116986761T= NCBI36
NG_016465.4:g.98688T= , LRG_663:g.98688T=

Transcript Alleles

HGVS Amino-acid Change
NM_000492.4:c.1400T= (CFTR) MANE Select NP_000483.3:p.Leu467=
ENST00000003084.11:c.1400T= (CFTR) MANE Select ENSP00000003084.6:p.Leu467=
NM_000492.3:c.1400T= , LRG_663t1:c.1400T= (CFTR) NP_000483.3:p.Leu467=
NR_149084.1:n.221+1262A= (CFTR-AS1)
ENST00000003084.10:c.1400T= (CFTR) ENSP00000003084.6:p.Leu467=
ENST00000426809.5:c.1310T= (CFTR) ENSP00000389119.1:p.Leu437=
ENST00000647720.2:c.1400T= (CFTR) ENSP00000497673.2:p.Leu467=
ENST00000647978.1:c.*1114T= (CFTR) ENSP00000497658.1:n.*1114T=
ENST00000647978.2:c.*1114T= (CFTR) ENSP00000497658.1:n.*1114T=
ENST00000648260.1:c.1217T= (CFTR) ENSP00000497957.1:p.Leu406=
ENST00000649406.1:c.1217T= (CFTR) ENSP00000497965.1:p.Leu406=
ENST00000649781.1:c.1217T= (CFTR) ENSP00000497203.1:p.Leu406=
ENST00000649781.2:c.1217T= (CFTR) ENSP00000497203.1:p.Leu406=
ENST00000685018.2:c.1400T= (CFTR) ENSP00000510194.2:p.Leu467=
ENST00000687278.2:c.1400T= (CFTR) ENSP00000509593.2:p.Leu467=
ENST00000699585.1:c.1400T= (CFTR) ENSP00000514456.1:p.Leu467=
ENST00000699596.1:c.1400T= (CFTR) ENSP00000514465.1:p.Leu467=
ENST00000699597.1:c.1395T= (CFTR) ENSP00000514466.1:p.Thr465=
ENST00000699598.1:c.1400T= (CFTR) ENSP00000514467.1:p.Leu467=
ENST00000699599.1:c.1400T= (CFTR) ENSP00000514468.1:p.Leu467=
ENST00000699600.1:c.1400T= (CFTR) ENSP00000514469.1:p.Leu467=
ENST00000699601.1:c.1400T= (CFTR) ENSP00000514470.1:p.Leu467=
ENST00000699602.1:c.1400T= (CFTR) ENSP00000514471.1:p.Leu467=
ENST00000699604.1:c.*1224T= (CFTR) ENSP00000514472.1:n.*1224T=
ENST00000699605.1:c.974T= (CFTR) ENSP00000514473.1:p.Leu325=
XM_011515751.1:c.1490T= (CFTR) XP_011514053.1:p.Leu497=
XM_011515752.1:c.1490T= (CFTR) XP_011514054.1:p.Leu497=
XM_011515753.1:c.1157T= (CFTR) XP_011514055.1:p.Leu386=
XM_011515754.1:c.1157T= (CFTR) XP_011514056.1:p.Leu386=