Canonical Allele Identifier: CA325518
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 7107
dbSNP Id: rs77101217

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117559548C>T , CM000669.2:g.117559548C>T GRCh38
NC_000007.13:g.117199602C>T , CM000669.1:g.117199602C>T GRCh37
NC_000007.12:g.116986838C>T NCBI36
NG_016465.4:g.98765C>T , LRG_663:g.98765C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000003084.11:c.1477C>T MANE Select ENSP00000003084.6:p.Gln493Ter
ENST00000647978.1:c.*1191C>T ENSP00000497658.1:p.=
ENST00000648260.1:c.1294C>T ENSP00000497957.1:p.Gln432Ter
ENST00000649406.1:c.1294C>T ENSP00000497965.1:p.Gln432Ter
ENST00000649781.1:n.1294C>T ENSP00000497203.1:p.Gln432Ter
ENST00000003084.10:c.1477C>T ENSP00000003084.6:p.Gln493Ter
ENST00000426809.5:n.1387C>T ENSP00000389119.1:p.Gln463Ter
NM_000492.3:c.1477C>T , LRG_663t1:c.1477C>T NP_000483.3:p.Gln493Ter
XM_011515751.1:c.1567C>T XP_011514053.1:p.Gln523Ter
XM_011515752.1:c.1567C>T XP_011514054.1:p.Gln523Ter
XM_011515753.1:c.1234C>T XP_011514055.1:p.Gln412Ter
XM_011515754.1:c.1234C>T XP_011514056.1:p.Gln412Ter
NR_149084.1:n.221+1185G>A
NM_000492.4:c.1477C>T MANE Select NP_000483.3:p.Gln493Ter