Canonical Allele Identifier: CA327309
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53823
dbSNP Id: rs397508617

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117642574C>T , CM000669.2:g.117642574C>T GRCh38
NC_000007.13:g.117282628C>T , CM000669.1:g.117282628C>T GRCh37
NC_000007.12:g.117069864C>T NCBI36
NG_016465.4:g.181791C>T , LRG_663:g.181791C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.*63C>T ENSP00000497673.2:n.*63C>T
ENST00000647978.2:c.*3568C>T ENSP00000497658.1:n.*3568C>T
ENST00000649781.2:c.3671C>T ENSP00000497203.1:p.Ala1224Val
ENST00000685018.2:c.3854C>T ENSP00000510194.2:p.Ala1285Val
ENST00000687278.2:c.*507C>T ENSP00000509593.2:n.*507C>T
ENST00000699585.1:c.*63C>T ENSP00000514456.1:n.*63C>T
ENST00000699598.1:c.3854C>T ENSP00000514467.1:p.Ala1285Val
ENST00000699599.1:c.3854C>T ENSP00000514468.1:p.Ala1285Val
ENST00000699600.1:c.*515C>T ENSP00000514469.1:n.*515C>T
ENST00000699601.1:c.*2229C>T ENSP00000514470.1:n.*2229C>T
ENST00000699602.1:c.3848C>T ENSP00000514471.1:p.Ala1283Val
ENST00000699604.1:c.*3678C>T ENSP00000514472.1:n.*3678C>T
ENST00000699605.1:c.3428C>T ENSP00000514473.1:p.Ala1143Val
ENST00000685018.1:c.602C>T ENSP00000510194.1:p.Ala201Val
ENST00000687278.1:c.1641C>T ENSP00000509593.1:n.1641C>T
ENST00000689011.1:c.436C>T
ENST00000003084.11:c.3854C>T MANE Select ENSP00000003084.6:p.Ala1285Val
ENST00000647720.1:c.1304C>T
ENST00000649781.1:c.3671C>T ENSP00000497203.1:p.Ala1224Val
ENST00000003084.10:c.3854C>T ENSP00000003084.6:p.Ala1285Val
ENST00000426809.5:c.3764C>T ENSP00000389119.1:p.Ala1255Val
NM_000492.3:c.3854C>T , LRG_663t1:c.3854C>T NP_000483.3:p.Ala1285Val
XM_011515751.1:c.3944C>T XP_011514053.1:p.Ala1315Val
XM_011515752.1:c.3944C>T XP_011514054.1:p.Ala1315Val
XM_011515753.1:c.3611C>T XP_011514055.1:p.Ala1204Val
XM_011515754.1:c.3611C>T XP_011514056.1:p.Ala1204Val
NM_000492.4:c.3854C>T MANE Select NP_000483.3:p.Ala1285Val