Canonical Allele Identifier: CA368996352

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117267655A>T (hg19) ; chr7:g.117627601A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627601A>T , CM000669.2:g.117627601A>T	GRCh38
NC_000007.13:g.117267655A>T , CM000669.1:g.117267655A>T	GRCh37
NC_000007.12:g.117054891A>T	NCBI36
NG_016465.4:g.166818A>T , LRG_663:g.166818A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3517+31A>T	ENSP00000497673.2:n.3517+31A>T
ENST00000647978.2:c.*3262A>T	ENSP00000497658.1:n.*3262A>T
ENST00000649781.2:c.3365A>T	ENSP00000497203.1:p.Lys1122Met
ENST00000685018.2:c.3548A>T	ENSP00000510194.2:p.Lys1183Met
ENST00000687278.2:c.*201A>T	ENSP00000509593.2:n.*201A>T
ENST00000699585.1:c.3517+31A>T	ENSP00000514456.1:n.3517+31A>T
ENST00000699598.1:c.3548A>T	ENSP00000514467.1:p.Lys1183Met
ENST00000699599.1:c.3548A>T	ENSP00000514468.1:p.Lys1183Met
ENST00000699600.1:c.*209A>T	ENSP00000514469.1:n.*209A>T
ENST00000699601.1:c.*1923A>T	ENSP00000514470.1:n.*1923A>T
ENST00000699602.1:c.3542A>T	ENSP00000514471.1:p.Lys1181Met
ENST00000699604.1:c.*3372A>T	ENSP00000514472.1:n.*3372A>T
ENST00000699605.1:c.3122A>T	ENSP00000514473.1:p.Lys1041Met
ENST00000685018.1:c.296A>T	ENSP00000510194.1:p.Lys99Met
ENST00000687278.1:c.1335A>T	ENSP00000509593.1:n.1335A>T
ENST00000689011.1:c.130A>T
ENST00000003084.11:c.3548A>T MANE Select	ENSP00000003084.6:p.Lys1183Met
ENST00000647720.1:c.1167+31A>T
ENST00000648260.1:c.2330A>T	ENSP00000497957.1:p.Lys777Met
ENST00000649406.1:c.3365A>T	ENSP00000497965.1:p.Lys1122Met
ENST00000649781.1:c.3365A>T	ENSP00000497203.1:p.Lys1122Met
ENST00000003084.10:c.3548A>T	ENSP00000003084.6:p.Lys1183Met
ENST00000426809.5:c.3458A>T	ENSP00000389119.1:p.Lys1153Met
ENST00000468795.1:c.373A>T
NM_000492.3:c.3548A>T , LRG_663t1:c.3548A>T	NP_000483.3:p.Lys1183Met
XM_011515751.1:c.3638A>T	XP_011514053.1:p.Lys1213Met
XM_011515752.1:c.3638A>T	XP_011514054.1:p.Lys1213Met
XM_011515753.1:c.3305A>T	XP_011514055.1:p.Lys1102Met
XM_011515754.1:c.3305A>T	XP_011514056.1:p.Lys1102Met
NM_000492.4:c.3548A>T MANE Select	NP_000483.3:p.Lys1183Met