Canonical Allele Identifier: CA2684588444

Gene: CFTR

Linked Data

• gnomAD v4: 7-117611751-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117611754del , CM000669.2:g.117611754del	GRCh38
NC_000007.13:g.117251808del , CM000669.1:g.117251808del	GRCh37
NC_000007.12:g.117039044del	NCBI36
NG_016465.4:g.150971del , LRG_663:g.150971del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3313del	ENSP00000497673.2:p.Met1105Ter
ENST00000647978.2:c.*3027del	ENSP00000497658.1:n.*3027del
ENST00000649781.2:c.3130del	ENSP00000497203.1:p.Met1044Ter
ENST00000685018.2:c.3313del	ENSP00000510194.2:p.Met1105Ter
ENST00000687278.2:c.3313del	ENSP00000509593.2:p.Met1105Ter
ENST00000699585.1:c.3313del	ENSP00000514456.1:p.Met1105Ter
ENST00000699598.1:c.3313del	ENSP00000514467.1:p.Met1105Ter
ENST00000699599.1:c.3313del	ENSP00000514468.1:p.Met1105Ter
ENST00000699600.1:c.3313del	ENSP00000514469.1:p.Met1105Ter
ENST00000699601.1:c.*1613del	ENSP00000514470.1:n.*1613del
ENST00000699602.1:c.3313del	ENSP00000514471.1:p.Met1105Ter
ENST00000699604.1:c.*3137del	ENSP00000514472.1:n.*3137del
ENST00000699605.1:c.2887del	ENSP00000514473.1:p.Met963Ter
ENST00000685018.1:c.61del	ENSP00000510194.1:p.Met21Ter
ENST00000687278.1:c.904del	ENSP00000509593.1:p.Met302Ter
ENST00000003084.11:c.3313del MANE Select	ENSP00000003084.6:p.Met1105Ter
ENST00000647720.1:c.963del
ENST00000648260.1:c.2095del	ENSP00000497957.1:p.Met699Ter
ENST00000649406.1:c.3130del	ENSP00000497965.1:p.Met1044Ter
ENST00000649781.1:c.3130del	ENSP00000497203.1:p.Met1044Ter
ENST00000003084.10:c.3313del	ENSP00000003084.6:p.Met1105Ter
ENST00000426809.5:c.3223del	ENSP00000389119.1:p.Met1075Ter
ENST00000468795.1:c.138del
NM_000492.3:c.3313del , LRG_663t1:c.3313del	NP_000483.3:p.Met1105Ter
XM_011515751.1:c.3403del	XP_011514053.1:p.Met1135Ter
XM_011515752.1:c.3403del	XP_011514054.1:p.Met1135Ter
XM_011515753.1:c.3070del	XP_011514055.1:p.Met1024Ter
XM_011515754.1:c.3070del	XP_011514056.1:p.Met1024Ter
NM_000492.4:c.3313del MANE Select	NP_000483.3:p.Met1105Ter