Canonical Allele Identifier: CA327183
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53741
dbSNP Id: rs397508561

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117614680G>A , CM000669.2:g.117614680G>A GRCh38
NC_000007.13:g.117254734G>A , CM000669.1:g.117254734G>A GRCh37
NC_000007.12:g.117041970G>A NCBI36
NG_016465.4:g.153897G>A , LRG_663:g.153897G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.3435G>A ENSP00000497673.2:p.Trp1145Ter
ENST00000647978.2:c.*3149G>A ENSP00000497658.1:n.*3149G>A
ENST00000649781.2:c.3252G>A ENSP00000497203.1:p.Trp1084Ter
ENST00000685018.2:c.3435G>A ENSP00000510194.2:p.Trp1145Ter
ENST00000687278.2:c.3435G>A ENSP00000509593.2:p.Trp1145Ter
ENST00000699585.1:c.3435G>A ENSP00000514456.1:p.Trp1145Ter
ENST00000699598.1:c.3435G>A ENSP00000514467.1:p.Trp1145Ter
ENST00000699599.1:c.3435G>A ENSP00000514468.1:p.Trp1145Ter
ENST00000699600.1:c.3435G>A ENSP00000514469.1:p.Trp1145Ter
ENST00000699601.1:c.*1810G>A ENSP00000514470.1:n.*1810G>A
ENST00000699602.1:c.3429G>A ENSP00000514471.1:p.Trp1143Ter
ENST00000699604.1:c.*3259G>A ENSP00000514472.1:n.*3259G>A
ENST00000699605.1:c.3009G>A ENSP00000514473.1:p.Trp1003Ter
ENST00000685018.1:c.183G>A ENSP00000510194.1:p.Trp61Ter
ENST00000687278.1:c.1026G>A ENSP00000509593.1:p.Trp342Ter
ENST00000689011.1:c.17G>A
ENST00000003084.11:c.3435G>A MANE Select ENSP00000003084.6:p.Trp1145Ter
ENST00000647720.1:c.1085G>A
ENST00000648260.1:c.2217G>A ENSP00000497957.1:p.Trp739Ter
ENST00000649406.1:c.3252G>A ENSP00000497965.1:p.Trp1084Ter
ENST00000649781.1:c.3252G>A ENSP00000497203.1:p.Trp1084Ter
ENST00000003084.10:c.3435G>A ENSP00000003084.6:p.Trp1145Ter
ENST00000426809.5:c.3345G>A ENSP00000389119.1:p.Trp1115Ter
ENST00000468795.1:c.260G>A
NM_000492.3:c.3435G>A , LRG_663t1:c.3435G>A NP_000483.3:p.Trp1145Ter
XM_011515751.1:c.3525G>A XP_011514053.1:p.Trp1175Ter
XM_011515752.1:c.3525G>A XP_011514054.1:p.Trp1175Ter
XM_011515753.1:c.3192G>A XP_011514055.1:p.Trp1064Ter
XM_011515754.1:c.3192G>A XP_011514056.1:p.Trp1064Ter
NM_000492.4:c.3435G>A MANE Select NP_000483.3:p.Trp1145Ter