Canonical Allele Identifier: CA327223

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53766
• ClinVar RCV Id: RCV000577595
• dbSNP Id: rs397508578
• MyVariant Identifiers: chr7:g.117267636A>T (hg19) ; chr7:g.117627582A>T (hg38)
• PubMed: PMID:10605524

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627582A>T , CM000669.2:g.117627582A>T	GRCh38
NC_000007.13:g.117267636A>T , CM000669.1:g.117267636A>T	GRCh37
NC_000007.12:g.117054872A>T	NCBI36
NG_016465.4:g.166799A>T , LRG_663:g.166799A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3517+12A>T	ENSP00000497673.2:n.3517+12A>T
ENST00000647978.2:c.*3243A>T	ENSP00000497658.1:n.*3243A>T
ENST00000649781.2:c.3346A>T	ENSP00000497203.1:p.Lys1116Ter
ENST00000685018.2:c.3529A>T	ENSP00000510194.2:p.Lys1177Ter
ENST00000687278.2:c.*182A>T	ENSP00000509593.2:n.*182A>T
ENST00000699585.1:c.3517+12A>T	ENSP00000514456.1:n.3517+12A>T
ENST00000699598.1:c.3529A>T	ENSP00000514467.1:p.Lys1177Ter
ENST00000699599.1:c.3529A>T	ENSP00000514468.1:p.Lys1177Ter
ENST00000699600.1:c.*190A>T	ENSP00000514469.1:n.*190A>T
ENST00000699601.1:c.*1904A>T	ENSP00000514470.1:n.*1904A>T
ENST00000699602.1:c.3523A>T	ENSP00000514471.1:p.Lys1175Ter
ENST00000699604.1:c.*3353A>T	ENSP00000514472.1:n.*3353A>T
ENST00000699605.1:c.3103A>T	ENSP00000514473.1:p.Lys1035Ter
ENST00000685018.1:c.277A>T	ENSP00000510194.1:p.Lys93Ter
ENST00000687278.1:c.1316A>T	ENSP00000509593.1:n.1316A>T
ENST00000689011.1:c.111A>T
ENST00000003084.11:c.3529A>T MANE Select	ENSP00000003084.6:p.Lys1177Ter
ENST00000647720.1:c.1167+12A>T
ENST00000648260.1:c.2311A>T	ENSP00000497957.1:p.Lys771Ter
ENST00000649406.1:c.3346A>T	ENSP00000497965.1:p.Lys1116Ter
ENST00000649781.1:c.3346A>T	ENSP00000497203.1:p.Lys1116Ter
ENST00000003084.10:c.3529A>T	ENSP00000003084.6:p.Lys1177Ter
ENST00000426809.5:c.3439A>T	ENSP00000389119.1:p.Lys1147Ter
ENST00000468795.1:c.354A>T
NM_000492.3:c.3529A>T , LRG_663t1:c.3529A>T	NP_000483.3:p.Lys1177Ter
XM_011515751.1:c.3619A>T	XP_011514053.1:p.Lys1207Ter
XM_011515752.1:c.3619A>T	XP_011514054.1:p.Lys1207Ter
XM_011515753.1:c.3286A>T	XP_011514055.1:p.Lys1096Ter
XM_011515754.1:c.3286A>T	XP_011514056.1:p.Lys1096Ter
NM_000492.4:c.3529A>T MANE Select	NP_000483.3:p.Lys1177Ter