Canonical Allele Identifier: CA1737392036

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1731130
• ClinVar RCV Id: RCV002452132
• dbSNP Id: rs1792456337

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614652_117614667del , CM000669.2:g.117614652_117614667del	GRCh38
NC_000007.13:g.117254706_117254721del , CM000669.1:g.117254706_117254721del	GRCh37
NC_000007.12:g.117041942_117041957del	NCBI36
NG_016465.4:g.153869_153884del , LRG_663:g.153869_153884del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3407_3422del	ENSP00000497673.2:p.Ala1136ValfsTer7
ENST00000647978.2:c.*3121_*3136del	ENSP00000497658.1:n.*3121_*3136del
ENST00000649781.2:c.3224_3239del	ENSP00000497203.1:p.Ala1075ValfsTer7
ENST00000685018.2:c.3407_3422del	ENSP00000510194.2:p.Ala1136ValfsTer7
ENST00000687278.2:c.3407_3422del	ENSP00000509593.2:p.Ala1136ValfsTer7
ENST00000699585.1:c.3407_3422del	ENSP00000514456.1:p.Ala1136ValfsTer7
ENST00000699598.1:c.3407_3422del	ENSP00000514467.1:p.Ala1136ValfsTer7
ENST00000699599.1:c.3407_3422del	ENSP00000514468.1:p.Ala1136ValfsTer7
ENST00000699600.1:c.3407_3422del	ENSP00000514469.1:p.Ala1136ValfsTer7
ENST00000699601.1:c.*1782_*1797del	ENSP00000514470.1:n.*1782_*1797del
ENST00000699602.1:c.3401_3416del	ENSP00000514471.1:p.Ala1134ValfsTer7
ENST00000699604.1:c.*3231_*3246del	ENSP00000514472.1:n.*3231_*3246del
ENST00000699605.1:c.2981_2996del	ENSP00000514473.1:p.Ala994ValfsTer7
ENST00000685018.1:c.155_170del	ENSP00000510194.1:p.Ala52ValfsTer7
ENST00000687278.1:c.998_1013del	ENSP00000509593.1:p.Ala333ValfsTer7
ENST00000003084.11:c.3407_3422del MANE Select	ENSP00000003084.6:p.Ala1136ValfsTer7
ENST00000647720.1:c.1057_1072del
ENST00000648260.1:c.2189_2204del	ENSP00000497957.1:p.Ala730ValfsTer7
ENST00000649406.1:c.3224_3239del	ENSP00000497965.1:p.Ala1075ValfsTer7
ENST00000649781.1:c.3224_3239del	ENSP00000497203.1:p.Ala1075ValfsTer7
ENST00000003084.10:c.3407_3422del	ENSP00000003084.6:p.Ala1136ValfsTer7
ENST00000426809.5:c.3317_3332del	ENSP00000389119.1:p.Ala1106ValfsTer7
ENST00000468795.1:c.232_247del
NM_000492.3:c.3407_3422del , LRG_663t1:c.3407_3422del	NP_000483.3:p.Ala1136ValfsTer7
XM_011515751.1:c.3497_3512del	XP_011514053.1:p.Ala1166ValfsTer7
XM_011515752.1:c.3497_3512del	XP_011514054.1:p.Ala1166ValfsTer7
XM_011515753.1:c.3164_3179del	XP_011514055.1:p.Ala1055ValfsTer7
XM_011515754.1:c.3164_3179del	XP_011514056.1:p.Ala1055ValfsTer7
NM_000492.4:c.3407_3422del MANE Select	NP_000483.3:p.Ala1136ValfsTer7