Canonical Allele Identifier: CA326903
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53552
dbSNP Id: rs149790377

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117603613T>A , CM000669.2:g.117603613T>A GRCh38
NC_000007.13:g.117243667T>A , CM000669.1:g.117243667T>A GRCh37
NC_000007.12:g.117030903T>A NCBI36
NG_016465.4:g.142830T>A , LRG_663:g.142830T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000003084.11:c.2739T>A MANE Select ENSP00000003084.6:p.Tyr913Ter
ENST00000647720.1:n.389T>A
ENST00000648260.1:c.1521T>A ENSP00000497957.1:p.Tyr507Ter
ENST00000649406.1:c.2556T>A ENSP00000497965.1:p.Tyr852Ter
ENST00000649781.1:n.2556T>A ENSP00000497203.1:p.Tyr852Ter
ENST00000003084.10:c.2739T>A ENSP00000003084.6:p.Tyr913Ter
ENST00000426809.5:n.2649T>A ENSP00000389119.1:p.Tyr883Ter
NM_000492.3:c.2739T>A , LRG_663t1:c.2739T>A NP_000483.3:p.Tyr913Ter
XM_011515751.1:c.2829T>A XP_011514053.1:p.Tyr943Ter
XM_011515752.1:c.2829T>A XP_011514054.1:p.Tyr943Ter
XM_011515753.1:c.2496T>A XP_011514055.1:p.Tyr832Ter
XM_011515754.1:c.2496T>A XP_011514056.1:p.Tyr832Ter
NM_000492.4:c.2739T>A MANE Select NP_000483.3:p.Tyr913Ter