Canonical Allele Identifier: CA368987317

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117243782A>T (hg19) ; chr7:g.117603728A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603728A>T , CM000669.2:g.117603728A>T	GRCh38
NC_000007.13:g.117243782A>T , CM000669.1:g.117243782A>T	GRCh37
NC_000007.12:g.117031018A>T	NCBI36
NG_016465.4:g.142945A>T , LRG_663:g.142945A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2854A>T	ENSP00000497673.2:p.Met952Leu
ENST00000647978.2:c.*2568A>T	ENSP00000497658.1:n.*2568A>T
ENST00000649781.2:c.2671A>T	ENSP00000497203.1:p.Met891Leu
ENST00000685018.2:c.2854A>T	ENSP00000510194.2:p.Met952Leu
ENST00000687278.2:c.2854A>T	ENSP00000509593.2:p.Met952Leu
ENST00000699585.1:c.2854A>T	ENSP00000514456.1:p.Met952Leu
ENST00000699598.1:c.2854A>T	ENSP00000514467.1:p.Met952Leu
ENST00000699599.1:c.2854A>T	ENSP00000514468.1:p.Met952Leu
ENST00000699600.1:c.2854A>T	ENSP00000514469.1:p.Met952Leu
ENST00000699601.1:c.*1154A>T	ENSP00000514470.1:n.*1154A>T
ENST00000699602.1:c.2854A>T	ENSP00000514471.1:p.Met952Leu
ENST00000699604.1:c.*2678A>T	ENSP00000514472.1:n.*2678A>T
ENST00000699605.1:c.2428A>T	ENSP00000514473.1:p.Met810Leu
ENST00000687278.1:c.445A>T	ENSP00000509593.1:p.Met149Leu
ENST00000003084.11:c.2854A>T MANE Select	ENSP00000003084.6:p.Met952Leu
ENST00000647720.1:c.504A>T
ENST00000648260.1:c.1636A>T	ENSP00000497957.1:p.Met546Leu
ENST00000649406.1:c.2671A>T	ENSP00000497965.1:p.Met891Leu
ENST00000649781.1:c.2671A>T	ENSP00000497203.1:p.Met891Leu
ENST00000003084.10:c.2854A>T	ENSP00000003084.6:p.Met952Leu
ENST00000426809.5:c.2764A>T	ENSP00000389119.1:p.Met922Leu
NM_000492.3:c.2854A>T , LRG_663t1:c.2854A>T	NP_000483.3:p.Met952Leu
XM_011515751.1:c.2944A>T	XP_011514053.1:p.Met982Leu
XM_011515752.1:c.2944A>T	XP_011514054.1:p.Met982Leu
XM_011515753.1:c.2611A>T	XP_011514055.1:p.Met871Leu
XM_011515754.1:c.2611A>T	XP_011514056.1:p.Met871Leu
NM_000492.4:c.2854A>T MANE Select	NP_000483.3:p.Met952Leu