Canonical Allele Identifier: CA368979172

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117232221A>T (hg19) ; chr7:g.117592167A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592167A>T , CM000669.2:g.117592167A>T	GRCh38
NC_000007.13:g.117232221A>T , CM000669.1:g.117232221A>T	GRCh37
NC_000007.12:g.117019457A>T	NCBI36
NG_016465.4:g.131384A>T , LRG_663:g.131384A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2000A>T	ENSP00000497673.2:p.His667Leu
ENST00000647978.2:c.*1714A>T	ENSP00000497658.1:n.*1714A>T
ENST00000649781.2:c.1817A>T	ENSP00000497203.1:p.His606Leu
ENST00000685018.2:c.2000A>T	ENSP00000510194.2:p.His667Leu
ENST00000687278.2:c.2000A>T	ENSP00000509593.2:p.His667Leu
ENST00000699585.1:c.2000A>T	ENSP00000514456.1:p.His667Leu
ENST00000699598.1:c.2000A>T	ENSP00000514467.1:p.His667Leu
ENST00000699599.1:c.2000A>T	ENSP00000514468.1:p.His667Leu
ENST00000699600.1:c.2000A>T	ENSP00000514469.1:p.His667Leu
ENST00000699601.1:c.*300A>T	ENSP00000514470.1:n.*300A>T
ENST00000699602.1:c.2000A>T	ENSP00000514471.1:p.His667Leu
ENST00000699604.1:c.*1824A>T	ENSP00000514472.1:n.*1824A>T
ENST00000699605.1:c.1574A>T	ENSP00000514473.1:p.His525Leu
ENST00000003084.11:c.2000A>T MANE Select	ENSP00000003084.6:p.His667Leu
ENST00000647978.1:c.*1714A>T	ENSP00000497658.1:n.*1714A>T
ENST00000648260.1:c.1402-10659A>T	ENSP00000497957.1:n.1402-10659A>T
ENST00000649406.1:c.1817A>T	ENSP00000497965.1:p.His606Leu
ENST00000649781.1:c.1817A>T	ENSP00000497203.1:p.His606Leu
ENST00000003084.10:c.2000A>T	ENSP00000003084.6:p.His667Leu
ENST00000426809.5:c.1910A>T	ENSP00000389119.1:p.His637Leu
NM_000492.3:c.2000A>T , LRG_663t1:c.2000A>T	NP_000483.3:p.His667Leu
XM_011515751.1:c.2090A>T	XP_011514053.1:p.His697Leu
XM_011515752.1:c.2090A>T	XP_011514054.1:p.His697Leu
XM_011515753.1:c.1757A>T	XP_011514055.1:p.His586Leu
XM_011515754.1:c.1757A>T	XP_011514056.1:p.His586Leu
NM_000492.4:c.2000A>T MANE Select	NP_000483.3:p.His667Leu