Canonical Allele Identifier: CA16041127
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370599
ClinVar RCV Id: RCV000410831
dbSNP Id: rs1057516619

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117536669A>T , CM000669.2:g.117536669A>T GRCh38
NC_000007.13:g.117176723A>T , CM000669.1:g.117176723A>T GRCh37
NC_000007.12:g.116963959A>T NCBI36
NG_016465.4:g.75886A>T , LRG_663:g.75886A>T

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.865A>T , LRG_663t1:c.865A>T NP_000483.3:p.Arg289Ter
XM_011515751.1:c.955A>T XP_011514053.1:p.Arg319Ter
XM_011515752.1:c.955A>T XP_011514054.1:p.Arg319Ter
XM_011515753.1:c.622A>T XP_011514055.1:p.Arg208Ter
XM_011515754.1:c.622A>T XP_011514056.1:p.Arg208Ter
ENST00000003084.10:c.865A>T ENSP00000003084.6:p.Arg289Ter
ENST00000426809.5:n.775A>T ENSP00000389119.1:p.Arg259Ter