Canonical Allele Identifier: CA368974830

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282556T>C (hg19) ; chr7:g.117642502T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642502T>C , CM000669.2:g.117642502T>C	GRCh38
NC_000007.13:g.117282556T>C , CM000669.1:g.117282556T>C	GRCh37
NC_000007.12:g.117069792T>C	NCBI36
NG_016465.4:g.181719T>C , LRG_663:g.181719T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3582T>C	ENSP00000497673.2:p.Thr1194=
ENST00000647978.2:c.*3496T>C	ENSP00000497658.1:n.*3496T>C
ENST00000649781.2:c.3599T>C	ENSP00000497203.1:p.Leu1200Pro
ENST00000685018.2:c.3782T>C	ENSP00000510194.2:p.Leu1261Pro
ENST00000687278.2:c.*435T>C	ENSP00000509593.2:n.*435T>C
ENST00000699585.1:c.3582T>C	ENSP00000514456.1:p.Thr1194=
ENST00000699598.1:c.3782T>C	ENSP00000514467.1:p.Leu1261Pro
ENST00000699599.1:c.3782T>C	ENSP00000514468.1:p.Leu1261Pro
ENST00000699600.1:c.*443T>C	ENSP00000514469.1:n.*443T>C
ENST00000699601.1:c.*2157T>C	ENSP00000514470.1:n.*2157T>C
ENST00000699602.1:c.3776T>C	ENSP00000514471.1:p.Leu1259Pro
ENST00000699604.1:c.*3606T>C	ENSP00000514472.1:n.*3606T>C
ENST00000699605.1:c.3356T>C	ENSP00000514473.1:p.Leu1119Pro
ENST00000685018.1:c.530T>C	ENSP00000510194.1:p.Leu177Pro
ENST00000687278.1:c.1569T>C	ENSP00000509593.1:n.1569T>C
ENST00000689011.1:c.364T>C
ENST00000003084.11:c.3782T>C MANE Select	ENSP00000003084.6:p.Leu1261Pro
ENST00000647720.1:c.1232T>C
ENST00000649781.1:c.3599T>C	ENSP00000497203.1:p.Leu1200Pro
ENST00000003084.10:c.3782T>C	ENSP00000003084.6:p.Leu1261Pro
ENST00000426809.5:c.3692T>C	ENSP00000389119.1:p.Leu1231Pro
NM_000492.3:c.3782T>C , LRG_663t1:c.3782T>C	NP_000483.3:p.Leu1261Pro
XM_011515751.1:c.3872T>C	XP_011514053.1:p.Leu1291Pro
XM_011515752.1:c.3872T>C	XP_011514054.1:p.Leu1291Pro
XM_011515753.1:c.3539T>C	XP_011514055.1:p.Leu1180Pro
XM_011515754.1:c.3539T>C	XP_011514056.1:p.Leu1180Pro
NM_000492.4:c.3782T>C MANE Select	NP_000483.3:p.Leu1261Pro