Canonical Allele Identifier: CA368986530
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 633161
ClinVar RCV Id: RCV000781253
dbSNP Id: rs1562911534

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117603607T>G , CM000669.2:g.117603607T>G GRCh38
NC_000007.13:g.117243661T>G , CM000669.1:g.117243661T>G GRCh37
NC_000007.12:g.117030897T>G NCBI36
NG_016465.4:g.142824T>G , LRG_663:g.142824T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.2733T>G ENSP00000497673.2:p.Ser911Arg
ENST00000647978.2:c.*2447T>G ENSP00000497658.1:n.*2447T>G
ENST00000649781.2:c.2550T>G ENSP00000497203.1:p.Ser850Arg
ENST00000685018.2:c.2733T>G ENSP00000510194.2:p.Ser911Arg
ENST00000687278.2:c.2733T>G ENSP00000509593.2:p.Ser911Arg
ENST00000699585.1:c.2733T>G ENSP00000514456.1:p.Ser911Arg
ENST00000699598.1:c.2733T>G ENSP00000514467.1:p.Ser911Arg
ENST00000699599.1:c.2733T>G ENSP00000514468.1:p.Ser911Arg
ENST00000699600.1:c.2733T>G ENSP00000514469.1:p.Ser911Arg
ENST00000699601.1:c.*1033T>G ENSP00000514470.1:n.*1033T>G
ENST00000699602.1:c.2733T>G ENSP00000514471.1:p.Ser911Arg
ENST00000699604.1:c.*2557T>G ENSP00000514472.1:n.*2557T>G
ENST00000699605.1:c.2307T>G ENSP00000514473.1:p.Ser769Arg
ENST00000687278.1:c.324T>G ENSP00000509593.1:p.Ser108Arg
ENST00000003084.11:c.2733T>G MANE Select ENSP00000003084.6:p.Ser911Arg
ENST00000647720.1:c.383T>G
ENST00000648260.1:c.1515T>G ENSP00000497957.1:p.Ser505Arg
ENST00000649406.1:c.2550T>G ENSP00000497965.1:p.Ser850Arg
ENST00000649781.1:c.2550T>G ENSP00000497203.1:p.Ser850Arg
ENST00000003084.10:c.2733T>G ENSP00000003084.6:p.Ser911Arg
ENST00000426809.5:c.2643T>G ENSP00000389119.1:p.Ser881Arg
NM_000492.3:c.2733T>G , LRG_663t1:c.2733T>G NP_000483.3:p.Ser911Arg
XM_011515751.1:c.2823T>G XP_011514053.1:p.Ser941Arg
XM_011515752.1:c.2823T>G XP_011514054.1:p.Ser941Arg
XM_011515753.1:c.2490T>G XP_011514055.1:p.Ser830Arg
XM_011515754.1:c.2490T>G XP_011514056.1:p.Ser830Arg
NM_000492.4:c.2733T>G MANE Select NP_000483.3:p.Ser911Arg