Canonical Allele Identifier: CA328095
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53451
ClinVar RCV Id: RCV000056360
dbSNP Id: rs397508350

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117592362T>G , CM000669.2:g.117592362T>G GRCh38
NC_000007.13:g.117232416T>G , CM000669.1:g.117232416T>G GRCh37
NC_000007.12:g.117019652T>G NCBI36
NG_016465.4:g.131579T>G , LRG_663:g.131579T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000003084.11:c.2195T>G MANE Select ENSP00000003084.6:p.Leu732Ter
ENST00000647978.1:c.*1909T>G ENSP00000497658.1:p.=
ENST00000648260.1:c.1402-10464T>G ENSP00000497957.1:p.=
ENST00000649406.1:c.2012T>G ENSP00000497965.1:p.Leu671Ter
ENST00000649781.1:n.2012T>G ENSP00000497203.1:p.Leu671Ter
ENST00000003084.10:c.2195T>G ENSP00000003084.6:p.Leu732Ter
ENST00000426809.5:n.2105T>G ENSP00000389119.1:p.Leu702Ter
NM_000492.3:c.2195T>G , LRG_663t1:c.2195T>G NP_000483.3:p.Leu732Ter
XM_011515751.1:c.2285T>G XP_011514053.1:p.Leu762Ter
XM_011515752.1:c.2285T>G XP_011514054.1:p.Leu762Ter
XM_011515753.1:c.1952T>G XP_011514055.1:p.Leu651Ter
XM_011515754.1:c.1952T>G XP_011514056.1:p.Leu651Ter
NM_000492.4:c.2195T>G MANE Select NP_000483.3:p.Leu732Ter