Canonical Allele Identifier: CA325688
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 35819
dbSNP Id: rs143456784

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117504324C>T , CM000669.2:g.117504324C>T GRCh38
NC_000007.12:g.116931614C>T NCBI36
NC_000007.13:g.117144378C>T , CM000669.1:g.117144378C>T GRCh37
NG_016465.4:g.43541C>T , LRG_663:g.43541C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000003084.10:c.125C>T ENSP00000003084.6:p.Ser42Phe
ENST00000426809.5:n.125C>T ENSP00000389119.1:p.Ser42Phe
ENST00000446805.1:c.-119C>T ENSP00000417012.1:p.=
NM_000492.3:c.125C>T , LRG_663t1:c.125C>T NP_000483.3:p.Ser42Phe
XM_011515751.1:c.215C>T XP_011514053.1:p.Ser72Phe
XM_011515752.1:c.215C>T XP_011514054.1:p.Ser72Phe
XM_011515753.1:c.-119C>T XP_011514055.1:p.=
XM_011515754.1:c.-193C>T XP_011514056.1:p.=