Canonical Allele Identifier: CA913203341
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.[117559468C>G;117611650G>A] , CM000669.2:g.[117559468C>G;117611650G>A] GRCh38
NC_000007.13:g.[117199522C>G;117251704G>A] , CM000669.1:g.[117199522C>G;117251704G>A] GRCh37
NC_000007.12:g.[116986758C>G;117038940G>A] NCBI36
NG_016465.4:g.[98685C>G;150867G>A] , LRG_663:g.[98685C>G;150867G>A]

Transcript Alleles

HGVS Amino-acid Change
NM_000492.4:c.[1397C>G;3209G>A] MANE Select NP_000483.3:p.Ser466Ter
ENST00000003084.11:c.[1397C>G;3209G>A] MANE Select ENSP00000003084.6:p.Ser466Ter
NM_000492.3:c.[1397C>G;3209G>A] , LRG_663t1:c.[1397C>G;3209G>A] NP_000483.3:p.Ser466Ter
ENST00000003084.10:c.[1397C>G;3209G>A] ENSP00000003084.6:p.Ser466Ter
ENST00000426809.5:c.[1307C>G;3119G>A] ENSP00000389119.1:p.Ser436Ter
ENST00000647720.2:c.[1397C>G;3209G>A] ENSP00000497673.2:p.Ser466Ter
ENST00000647978.2:c.[*1111C>G;*2923G>A] ENSP00000497658.1:n.[*1111C>G;*2923G>A]
ENST00000648260.1:c.[1214C>G;1991G>A] ENSP00000497957.1:p.Ser405Ter
ENST00000649406.1:c.[1214C>G;3026G>A] ENSP00000497965.1:p.Ser405Ter
ENST00000649781.1:c.[1214C>G;3026G>A] ENSP00000497203.1:p.Ser405Ter
ENST00000649781.2:c.[1214C>G;3026G>A] ENSP00000497203.1:p.Ser405Ter
ENST00000685018.2:c.[1397C>G;3209G>A] ENSP00000510194.2:p.Ser466Ter
ENST00000687278.2:c.[1397C>G;3209G>A] ENSP00000509593.2:p.Ser466Ter
ENST00000699585.1:c.[1397C>G;3209G>A] ENSP00000514456.1:p.Ser466Ter
ENST00000699598.1:c.[1397C>G;3209G>A] ENSP00000514467.1:p.Ser466Ter
ENST00000699599.1:c.[1397C>G;3209G>A] ENSP00000514468.1:p.Ser466Ter
ENST00000699600.1:c.[1397C>G;3209G>A] ENSP00000514469.1:p.Ser466Ter
ENST00000699601.1:c.[1397C>G;*1509G>A] ENSP00000514470.1:p.Ser466Ter
ENST00000699602.1:c.[1397C>G;3209G>A] ENSP00000514471.1:p.Ser466Ter
ENST00000699604.1:c.[*1221C>G;*3033G>A] ENSP00000514472.1:n.[*1221C>G;*3033G>A]
ENST00000699605.1:c.[971C>G;2783G>A] ENSP00000514473.1:p.Ser324Ter
XM_011515751.1:c.[1487C>G;3299G>A] XP_011514053.1:p.Ser496Ter
XM_011515752.1:c.[1487C>G;3299G>A] XP_011514054.1:p.Ser496Ter
XM_011515753.1:c.[1154C>G;2966G>A] XP_011514055.1:p.Ser385Ter
XM_011515754.1:c.[1154C>G;2966G>A] XP_011514056.1:p.Ser385Ter