Canonical Allele Identifier: CA327191
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53745
dbSNP Id: rs397508565

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117614689C>A , CM000669.2:g.117614689C>A GRCh38
NC_000007.13:g.117254743C>A , CM000669.1:g.117254743C>A GRCh37
NC_000007.12:g.117041979C>A NCBI36
NG_016465.4:g.153906C>A , LRG_663:g.153906C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.3444C>A ENSP00000497673.2:p.Asn1148Lys
ENST00000647978.2:c.*3158C>A ENSP00000497658.1:n.*3158C>A
ENST00000649781.2:c.3261C>A ENSP00000497203.1:p.Asn1087Lys
ENST00000685018.2:c.3444C>A ENSP00000510194.2:p.Asn1148Lys
ENST00000687278.2:c.3444C>A ENSP00000509593.2:p.Asn1148Lys
ENST00000699585.1:c.3444C>A ENSP00000514456.1:p.Asn1148Lys
ENST00000699598.1:c.3444C>A ENSP00000514467.1:p.Asn1148Lys
ENST00000699599.1:c.3444C>A ENSP00000514468.1:p.Asn1148Lys
ENST00000699600.1:c.3444C>A ENSP00000514469.1:p.Asn1148Lys
ENST00000699601.1:c.*1819C>A ENSP00000514470.1:n.*1819C>A
ENST00000699602.1:c.3438C>A ENSP00000514471.1:p.Asn1146Lys
ENST00000699604.1:c.*3268C>A ENSP00000514472.1:n.*3268C>A
ENST00000699605.1:c.3018C>A ENSP00000514473.1:p.Asn1006Lys
ENST00000685018.1:c.192C>A ENSP00000510194.1:p.Asn64Lys
ENST00000687278.1:c.1035C>A ENSP00000509593.1:p.Asn345Lys
ENST00000689011.1:c.26C>A
ENST00000003084.11:c.3444C>A MANE Select ENSP00000003084.6:p.Asn1148Lys
ENST00000647720.1:c.1094C>A
ENST00000648260.1:c.2226C>A ENSP00000497957.1:p.Asn742Lys
ENST00000649406.1:c.3261C>A ENSP00000497965.1:p.Asn1087Lys
ENST00000649781.1:c.3261C>A ENSP00000497203.1:p.Asn1087Lys
ENST00000003084.10:c.3444C>A ENSP00000003084.6:p.Asn1148Lys
ENST00000426809.5:c.3354C>A ENSP00000389119.1:p.Asn1118Lys
ENST00000468795.1:c.269C>A
NM_000492.3:c.3444C>A , LRG_663t1:c.3444C>A NP_000483.3:p.Asn1148Lys
XM_011515751.1:c.3534C>A XP_011514053.1:p.Asn1178Lys
XM_011515752.1:c.3534C>A XP_011514054.1:p.Asn1178Lys
XM_011515753.1:c.3201C>A XP_011514055.1:p.Asn1067Lys
XM_011515754.1:c.3201C>A XP_011514056.1:p.Asn1067Lys
NM_000492.4:c.3444C>A MANE Select NP_000483.3:p.Asn1148Lys