Canonical Allele Identifier: CA368997120

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2453641
• ClinVar RCV Id: RCV003187776
• MyVariant Identifiers: chr7:g.117267707A>T (hg19) ; chr7:g.117627653A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627653A>T , CM000669.2:g.117627653A>T	GRCh38
NC_000007.13:g.117267707A>T , CM000669.1:g.117267707A>T	GRCh37
NC_000007.12:g.117054943A>T	NCBI36
NG_016465.4:g.166870A>T , LRG_663:g.166870A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3517+83A>T	ENSP00000497673.2:n.3517+83A>T
ENST00000647978.2:c.*3314A>T	ENSP00000497658.1:n.*3314A>T
ENST00000649781.2:c.3417A>T	ENSP00000497203.1:p.Lys1139Asn
ENST00000685018.2:c.3600A>T	ENSP00000510194.2:p.Lys1200Asn
ENST00000687278.2:c.*253A>T	ENSP00000509593.2:n.*253A>T
ENST00000699585.1:c.3517+83A>T	ENSP00000514456.1:n.3517+83A>T
ENST00000699598.1:c.3600A>T	ENSP00000514467.1:p.Lys1200Asn
ENST00000699599.1:c.3600A>T	ENSP00000514468.1:p.Lys1200Asn
ENST00000699600.1:c.*261A>T	ENSP00000514469.1:n.*261A>T
ENST00000699601.1:c.*1975A>T	ENSP00000514470.1:n.*1975A>T
ENST00000699602.1:c.3594A>T	ENSP00000514471.1:p.Lys1198Asn
ENST00000699604.1:c.*3424A>T	ENSP00000514472.1:n.*3424A>T
ENST00000699605.1:c.3174A>T	ENSP00000514473.1:p.Lys1058Asn
ENST00000685018.1:c.348A>T	ENSP00000510194.1:p.Lys116Asn
ENST00000687278.1:c.1387A>T	ENSP00000509593.1:n.1387A>T
ENST00000689011.1:c.182A>T
ENST00000003084.11:c.3600A>T MANE Select	ENSP00000003084.6:p.Lys1200Asn
ENST00000647720.1:c.1167+83A>T
ENST00000648260.1:c.2382A>T	ENSP00000497957.1:p.Lys794Asn
ENST00000649406.1:c.3417A>T	ENSP00000497965.1:p.Lys1139Asn
ENST00000649781.1:c.3417A>T	ENSP00000497203.1:p.Lys1139Asn
ENST00000003084.10:c.3600A>T	ENSP00000003084.6:p.Lys1200Asn
ENST00000426809.5:c.3510A>T	ENSP00000389119.1:p.Lys1170Asn
ENST00000468795.1:c.425A>T
NM_000492.3:c.3600A>T , LRG_663t1:c.3600A>T	NP_000483.3:p.Lys1200Asn
XM_011515751.1:c.3690A>T	XP_011514053.1:p.Lys1230Asn
XM_011515752.1:c.3690A>T	XP_011514054.1:p.Lys1230Asn
XM_011515753.1:c.3357A>T	XP_011514055.1:p.Lys1119Asn
XM_011515754.1:c.3357A>T	XP_011514056.1:p.Lys1119Asn
NM_000492.4:c.3600A>T MANE Select	NP_000483.3:p.Lys1200Asn