Canonical Allele Identifier: CA2684618295

Gene: CFTR

Linked Data

• gnomAD v4: 7-117542021-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117542023del , CM000669.2:g.117542023del	GRCh38
NC_000007.13:g.117182077del , CM000669.1:g.117182077del	GRCh37
NC_000007.12:g.116969313del	NCBI36
NG_016465.4:g.81240del , LRG_663:g.81240del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1124del	ENSP00000497673.2:p.Leu375TyrfsTer13
ENST00000647978.2:c.*1021del	ENSP00000497658.1:n.*1021del
ENST00000649781.2:c.1124del	ENSP00000497203.1:p.Leu375TyrfsTer13
ENST00000685018.2:c.1124del	ENSP00000510194.2:p.Leu375TyrfsTer13
ENST00000687278.2:c.1124del	ENSP00000509593.2:p.Leu375TyrfsTer13
ENST00000699585.1:c.1124del	ENSP00000514456.1:p.Leu375TyrfsTer13
ENST00000699596.1:c.1124del	ENSP00000514465.1:p.Leu375TyrfsTer13
ENST00000699597.1:c.1124del	ENSP00000514466.1:p.Leu375TyrfsTer13
ENST00000699598.1:c.1124del	ENSP00000514467.1:p.Leu375TyrfsTer13
ENST00000699599.1:c.1124del	ENSP00000514468.1:p.Leu375TyrfsTer13
ENST00000699600.1:c.1124del	ENSP00000514469.1:p.Leu375TyrfsTer13
ENST00000699601.1:c.1124del	ENSP00000514470.1:p.Leu375TyrfsTer13
ENST00000699602.1:c.1124del	ENSP00000514471.1:p.Leu375TyrfsTer13
ENST00000699604.1:c.*948del	ENSP00000514472.1:n.*948del
ENST00000699605.1:c.881del	ENSP00000514473.1:p.Leu294TyrfsTer13
ENST00000003084.11:c.1124del MANE Select	ENSP00000003084.6:p.Leu375TyrfsTer13
ENST00000647978.1:c.*1021del	ENSP00000497658.1:n.*1021del
ENST00000648260.1:c.1124del	ENSP00000497957.1:p.Leu375TyrfsTer13
ENST00000649406.1:c.1124del	ENSP00000497965.1:p.Leu375TyrfsTer13
ENST00000649781.1:c.1124del	ENSP00000497203.1:p.Leu375TyrfsTer13
ENST00000673785.1:c.881del	ENSP00000501235.1:p.Leu294TyrfsTer13
ENST00000003084.10:c.1124del	ENSP00000003084.6:p.Leu375TyrfsTer13
ENST00000426809.5:c.1034del	ENSP00000389119.1:p.Leu345TyrfsTer13
NM_000492.3:c.1124del , LRG_663t1:c.1124del	NP_000483.3:p.Leu375TyrfsTer13
XM_011515751.1:c.1214del	XP_011514053.1:p.Leu405TyrfsTer13
XM_011515752.1:c.1214del	XP_011514054.1:p.Leu405TyrfsTer13
XM_011515753.1:c.881del	XP_011514055.1:p.Leu294TyrfsTer13
XM_011515754.1:c.881del	XP_011514056.1:p.Leu294TyrfsTer13
NM_000492.4:c.1124del MANE Select	NP_000483.3:p.Leu375TyrfsTer13