Canonical Allele Identifier: CA368990598
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs2116080754

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117610576T>G , CM000669.2:g.117610576T>G GRCh38
NC_000007.13:g.117250630T>G , CM000669.1:g.117250630T>G GRCh37
NC_000007.12:g.117037866T>G NCBI36
NG_016465.4:g.149793T>G , LRG_663:g.149793T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.3046T>G ENSP00000497673.2:p.Phe1016Val
ENST00000647978.2:c.*2760T>G ENSP00000497658.1:n.*2760T>G
ENST00000649781.2:c.2863T>G ENSP00000497203.1:p.Phe955Val
ENST00000685018.2:c.3046T>G ENSP00000510194.2:p.Phe1016Val
ENST00000687278.2:c.3046T>G ENSP00000509593.2:p.Phe1016Val
ENST00000699585.1:c.3046T>G ENSP00000514456.1:p.Phe1016Val
ENST00000699598.1:c.3046T>G ENSP00000514467.1:p.Phe1016Val
ENST00000699599.1:c.3046T>G ENSP00000514468.1:p.Phe1016Val
ENST00000699600.1:c.3046T>G ENSP00000514469.1:p.Phe1016Val
ENST00000699601.1:c.*1346T>G ENSP00000514470.1:n.*1346T>G
ENST00000699602.1:c.3046T>G ENSP00000514471.1:p.Phe1016Val
ENST00000699604.1:c.*2870T>G ENSP00000514472.1:n.*2870T>G
ENST00000699605.1:c.2620T>G ENSP00000514473.1:p.Phe874Val
ENST00000687278.1:c.637T>G ENSP00000509593.1:p.Phe213Val
ENST00000003084.11:c.3046T>G MANE Select ENSP00000003084.6:p.Phe1016Val
ENST00000647720.1:c.696T>G
ENST00000648260.1:c.1828T>G ENSP00000497957.1:p.Phe610Val
ENST00000649406.1:c.2863T>G ENSP00000497965.1:p.Phe955Val
ENST00000649781.1:c.2863T>G ENSP00000497203.1:p.Phe955Val
ENST00000003084.10:c.3046T>G ENSP00000003084.6:p.Phe1016Val
ENST00000426809.5:c.2956T>G ENSP00000389119.1:p.Phe986Val
NM_000492.3:c.3046T>G , LRG_663t1:c.3046T>G NP_000483.3:p.Phe1016Val
XM_011515751.1:c.3136T>G XP_011514053.1:p.Phe1046Val
XM_011515752.1:c.3136T>G XP_011514054.1:p.Phe1046Val
XM_011515753.1:c.2803T>G XP_011514055.1:p.Phe935Val
XM_011515754.1:c.2803T>G XP_011514056.1:p.Phe935Val
NM_000492.4:c.3046T>G MANE Select NP_000483.3:p.Phe1016Val