Canonical Allele Identifier: CA326836
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53505
dbSNP Id: rs201386642

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117594945G>T , CM000669.2:g.117594945G>T GRCh38
NC_000007.13:g.117234999G>T , CM000669.1:g.117234999G>T GRCh37
NC_000007.12:g.117022235G>T NCBI36
NG_016465.4:g.134162G>T , LRG_663:g.134162G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.2506G>T ENSP00000497673.2:p.Asp836Tyr
ENST00000647978.2:c.*2220G>T ENSP00000497658.1:n.*2220G>T
ENST00000649781.2:c.2323G>T ENSP00000497203.1:p.Asp775Tyr
ENST00000685018.2:c.2506G>T ENSP00000510194.2:p.Asp836Tyr
ENST00000687278.2:c.2506G>T ENSP00000509593.2:p.Asp836Tyr
ENST00000699585.1:c.2506G>T ENSP00000514456.1:p.Asp836Tyr
ENST00000699598.1:c.2506G>T ENSP00000514467.1:p.Asp836Tyr
ENST00000699599.1:c.2506G>T ENSP00000514468.1:p.Asp836Tyr
ENST00000699600.1:c.2506G>T ENSP00000514469.1:p.Asp836Tyr
ENST00000699601.1:c.*806G>T ENSP00000514470.1:n.*806G>T
ENST00000699602.1:c.2506G>T ENSP00000514471.1:p.Asp836Tyr
ENST00000699604.1:c.*2330G>T ENSP00000514472.1:n.*2330G>T
ENST00000699605.1:c.2080G>T ENSP00000514473.1:p.Asp694Tyr
ENST00000687278.1:c.97G>T ENSP00000509593.1:p.Asp33Tyr
ENST00000003084.11:c.2506G>T MANE Select ENSP00000003084.6:p.Asp836Tyr
ENST00000647720.1:c.156G>T
ENST00000647978.1:c.*2220G>T ENSP00000497658.1:n.*2220G>T
ENST00000648260.1:c.1402-7881G>T ENSP00000497957.1:n.1402-7881G>T
ENST00000649406.1:c.2323G>T ENSP00000497965.1:p.Asp775Tyr
ENST00000649781.1:c.2323G>T ENSP00000497203.1:p.Asp775Tyr
ENST00000003084.10:c.2506G>T ENSP00000003084.6:p.Asp836Tyr
ENST00000426809.5:c.2416G>T ENSP00000389119.1:p.Asp806Tyr
NM_000492.3:c.2506G>T , LRG_663t1:c.2506G>T NP_000483.3:p.Asp836Tyr
XM_011515751.1:c.2596G>T XP_011514053.1:p.Asp866Tyr
XM_011515752.1:c.2596G>T XP_011514054.1:p.Asp866Tyr
XM_011515753.1:c.2263G>T XP_011514055.1:p.Asp755Tyr
XM_011515754.1:c.2263G>T XP_011514056.1:p.Asp755Tyr
NM_000492.4:c.2506G>T MANE Select NP_000483.3:p.Asp836Tyr