Canonical Allele Identifier: CA368976792

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117535273G>A , CM000669.2:g.117535273G>A	GRCh38
NC_000007.13:g.117175327G>A , CM000669.1:g.117175327G>A	GRCh37
NC_000007.12:g.116962563G>A	NCBI36
NG_016465.4:g.74490G>A , LRG_663:g.74490G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.605G>A MANE Select	NP_000483.3:p.Trp202Ter
ENST00000003084.11:c.605G>A MANE Select	ENSP00000003084.6:p.Trp202Ter
NM_000492.3:c.605G>A , LRG_663t1:c.605G>A	NP_000483.3:p.Trp202Ter
ENST00000003084.10:c.605G>A	ENSP00000003084.6:p.Trp202Ter
ENST00000426809.5:c.515G>A	ENSP00000389119.1:p.Trp172Ter
ENST00000647720.2:c.605G>A	ENSP00000497673.2:p.Trp202Ter
ENST00000647978.1:c.*502G>A	ENSP00000497658.1:n.*502G>A
ENST00000647978.2:c.*502G>A	ENSP00000497658.1:n.*502G>A
ENST00000648260.1:c.605G>A	ENSP00000497957.1:p.Trp202Ter
ENST00000649406.1:c.605G>A	ENSP00000497965.1:p.Trp202Ter
ENST00000649781.1:c.605G>A	ENSP00000497203.1:p.Trp202Ter
ENST00000649781.2:c.605G>A	ENSP00000497203.1:p.Trp202Ter
ENST00000673785.1:c.362G>A	ENSP00000501235.1:p.Trp121Ter
ENST00000685018.2:c.605G>A	ENSP00000510194.2:p.Trp202Ter
ENST00000687278.2:c.605G>A	ENSP00000509593.2:p.Trp202Ter
ENST00000699585.1:c.605G>A	ENSP00000514456.1:p.Trp202Ter
ENST00000699596.1:c.605G>A	ENSP00000514465.1:p.Trp202Ter
ENST00000699597.1:c.605G>A	ENSP00000514466.1:p.Trp202Ter
ENST00000699598.1:c.605G>A	ENSP00000514467.1:p.Trp202Ter
ENST00000699599.1:c.605G>A	ENSP00000514468.1:p.Trp202Ter
ENST00000699600.1:c.605G>A	ENSP00000514469.1:p.Trp202Ter
ENST00000699601.1:c.605G>A	ENSP00000514470.1:p.Trp202Ter
ENST00000699602.1:c.605G>A	ENSP00000514471.1:p.Trp202Ter
ENST00000699604.1:c.*429G>A	ENSP00000514472.1:n.*429G>A
ENST00000699605.1:c.362G>A	ENSP00000514473.1:p.Trp121Ter
XM_011515751.1:c.695G>A	XP_011514053.1:p.Trp232Ter
XM_011515752.1:c.695G>A	XP_011514054.1:p.Trp232Ter
XM_011515753.1:c.362G>A	XP_011514055.1:p.Trp121Ter
XM_011515754.1:c.362G>A	XP_011514056.1:p.Trp121Ter