Canonical Allele Identifier: CA457231419

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1120991
• ClinVar RCV Id: RCV001451112
• dbSNP Id: rs2116129667
• MyVariant Identifiers: chr7:g.117267713C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627659C>T , CM000669.2:g.117627659C>T	GRCh38
NC_000007.13:g.117267713C>T , CM000669.1:g.117267713C>T	GRCh37
NC_000007.12:g.117054949C>T	NCBI36
NG_016465.4:g.166876C>T , LRG_663:g.166876C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3517+89C>T	ENSP00000497673.2:n.3517+89C>T
ENST00000647978.2:c.*3320C>T	ENSP00000497658.1:n.*3320C>T
ENST00000649781.2:c.3423C>T	ENSP00000497203.1:p.Asp1141=
ENST00000685018.2:c.3606C>T	ENSP00000510194.2:p.Asp1202=
ENST00000687278.2:c.*259C>T	ENSP00000509593.2:n.*259C>T
ENST00000699585.1:c.3517+89C>T	ENSP00000514456.1:n.3517+89C>T
ENST00000699598.1:c.3606C>T	ENSP00000514467.1:p.Asp1202=
ENST00000699599.1:c.3606C>T	ENSP00000514468.1:p.Asp1202=
ENST00000699600.1:c.*267C>T	ENSP00000514469.1:n.*267C>T
ENST00000699601.1:c.*1981C>T	ENSP00000514470.1:n.*1981C>T
ENST00000699602.1:c.3600C>T	ENSP00000514471.1:p.Asp1200=
ENST00000699604.1:c.*3430C>T	ENSP00000514472.1:n.*3430C>T
ENST00000699605.1:c.3180C>T	ENSP00000514473.1:p.Asp1060=
ENST00000685018.1:c.354C>T	ENSP00000510194.1:p.Asp118=
ENST00000687278.1:c.1393C>T	ENSP00000509593.1:n.1393C>T
ENST00000689011.1:c.188C>T
ENST00000003084.11:c.3606C>T MANE Select	ENSP00000003084.6:p.Asp1202=
ENST00000647720.1:c.1167+89C>T
ENST00000648260.1:c.2388C>T	ENSP00000497957.1:p.Asp796=
ENST00000649406.1:c.3423C>T	ENSP00000497965.1:p.Asp1141=
ENST00000649781.1:c.3423C>T	ENSP00000497203.1:p.Asp1141=
ENST00000003084.10:c.3606C>T	ENSP00000003084.6:p.Asp1202=
ENST00000426809.5:c.3516C>T	ENSP00000389119.1:p.Asp1172=
ENST00000468795.1:c.431C>T
NM_000492.3:c.3606C>T , LRG_663t1:c.3606C>T	NP_000483.3:p.Asp1202=
XM_011515751.1:c.3696C>T	XP_011514053.1:p.Asp1232=
XM_011515752.1:c.3696C>T	XP_011514054.1:p.Asp1232=
XM_011515753.1:c.3363C>T	XP_011514055.1:p.Asp1121=
XM_011515754.1:c.3363C>T	XP_011514056.1:p.Asp1121=
NM_000492.4:c.3606C>T MANE Select	NP_000483.3:p.Asp1202=