Canonical Allele Identifier: CA326800
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53480
dbSNP Id: rs374946172

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117592520C>T , CM000669.2:g.117592520C>T GRCh38
NC_000007.13:g.117232574C>T , CM000669.1:g.117232574C>T GRCh37
NC_000007.12:g.117019810C>T NCBI36
NG_016465.4:g.131737C>T , LRG_663:g.131737C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000003084.11:c.2353C>T MANE Select ENSP00000003084.6:p.Arg785Ter
ENST00000647720.1:n.3C>T
ENST00000647978.1:c.*2067C>T ENSP00000497658.1:p.=
ENST00000648260.1:c.1402-10306C>T ENSP00000497957.1:p.=
ENST00000649406.1:c.2170C>T ENSP00000497965.1:p.Arg724Ter
ENST00000649781.1:n.2170C>T ENSP00000497203.1:p.Arg724Ter
ENST00000003084.10:c.2353C>T ENSP00000003084.6:p.Arg785Ter
ENST00000426809.5:n.2263C>T ENSP00000389119.1:p.Arg755Ter
NM_000492.3:c.2353C>T , LRG_663t1:c.2353C>T NP_000483.3:p.Arg785Ter
XM_011515751.1:c.2443C>T XP_011514053.1:p.Arg815Ter
XM_011515752.1:c.2443C>T XP_011514054.1:p.Arg815Ter
XM_011515753.1:c.2110C>T XP_011514055.1:p.Arg704Ter
XM_011515754.1:c.2110C>T XP_011514056.1:p.Arg704Ter
NM_000492.4:c.2353C>T MANE Select NP_000483.3:p.Arg785Ter