Canonical Allele Identifier: CA368983913

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117594976G>T , CM000669.2:g.117594976G>T	GRCh38
NC_000007.13:g.117235030G>T , CM000669.1:g.117235030G>T	GRCh37
NC_000007.12:g.117022266G>T	NCBI36
NG_016465.4:g.134193G>T , LRG_663:g.134193G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.2537G>T MANE Select	NP_000483.3:p.Trp846Leu
ENST00000003084.11:c.2537G>T MANE Select	ENSP00000003084.6:p.Trp846Leu
NM_000492.3:c.2537G>T , LRG_663t1:c.2537G>T	NP_000483.3:p.Trp846Leu
ENST00000003084.10:c.2537G>T	ENSP00000003084.6:p.Trp846Leu
ENST00000426809.5:c.2447G>T	ENSP00000389119.1:p.Trp816Leu
ENST00000647720.1:c.187G>T
ENST00000647720.2:c.2537G>T	ENSP00000497673.2:p.Trp846Leu
ENST00000647978.1:c.*2251G>T	ENSP00000497658.1:n.*2251G>T
ENST00000647978.2:c.*2251G>T	ENSP00000497658.1:n.*2251G>T
ENST00000648260.1:c.1402-7850G>T	ENSP00000497957.1:n.1402-7850G>T
ENST00000649406.1:c.2354G>T	ENSP00000497965.1:p.Trp785Leu
ENST00000649781.1:c.2354G>T	ENSP00000497203.1:p.Trp785Leu
ENST00000649781.2:c.2354G>T	ENSP00000497203.1:p.Trp785Leu
ENST00000685018.2:c.2537G>T	ENSP00000510194.2:p.Trp846Leu
ENST00000687278.1:c.128G>T	ENSP00000509593.1:p.Trp43Leu
ENST00000687278.2:c.2537G>T	ENSP00000509593.2:p.Trp846Leu
ENST00000699585.1:c.2537G>T	ENSP00000514456.1:p.Trp846Leu
ENST00000699598.1:c.2537G>T	ENSP00000514467.1:p.Trp846Leu
ENST00000699599.1:c.2537G>T	ENSP00000514468.1:p.Trp846Leu
ENST00000699600.1:c.2537G>T	ENSP00000514469.1:p.Trp846Leu
ENST00000699601.1:c.*837G>T	ENSP00000514470.1:n.*837G>T
ENST00000699602.1:c.2537G>T	ENSP00000514471.1:p.Trp846Leu
ENST00000699604.1:c.*2361G>T	ENSP00000514472.1:n.*2361G>T
ENST00000699605.1:c.2111G>T	ENSP00000514473.1:p.Trp704Leu
XM_011515751.1:c.2627G>T	XP_011514053.1:p.Trp876Leu
XM_011515752.1:c.2627G>T	XP_011514054.1:p.Trp876Leu
XM_011515753.1:c.2294G>T	XP_011514055.1:p.Trp765Leu
XM_011515754.1:c.2294G>T	XP_011514056.1:p.Trp765Leu