Canonical Allele Identifier: CA164966621

Gene: CFTR

Linked Data

• dbSNP Id: rs925192503
• gnomAD v4: 7-117611728-T-G
• MyVariant Identifiers: chr7:g.117251782T>G (hg19) ; chr7:g.117611728T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117611728T>G , CM000669.2:g.117611728T>G	GRCh38
NC_000007.13:g.117251782T>G , CM000669.1:g.117251782T>G	GRCh37
NC_000007.12:g.117039018T>G	NCBI36
NG_016465.4:g.150945T>G , LRG_663:g.150945T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3287T>G	ENSP00000497673.2:p.Leu1096Arg
ENST00000647978.2:c.*3001T>G	ENSP00000497658.1:n.*3001T>G
ENST00000649781.2:c.3104T>G	ENSP00000497203.1:p.Leu1035Arg
ENST00000685018.2:c.3287T>G	ENSP00000510194.2:p.Leu1096Arg
ENST00000687278.2:c.3287T>G	ENSP00000509593.2:p.Leu1096Arg
ENST00000699585.1:c.3287T>G	ENSP00000514456.1:p.Leu1096Arg
ENST00000699598.1:c.3287T>G	ENSP00000514467.1:p.Leu1096Arg
ENST00000699599.1:c.3287T>G	ENSP00000514468.1:p.Leu1096Arg
ENST00000699600.1:c.3287T>G	ENSP00000514469.1:p.Leu1096Arg
ENST00000699601.1:c.*1587T>G	ENSP00000514470.1:n.*1587T>G
ENST00000699602.1:c.3287T>G	ENSP00000514471.1:p.Leu1096Arg
ENST00000699604.1:c.*3111T>G	ENSP00000514472.1:n.*3111T>G
ENST00000699605.1:c.2861T>G	ENSP00000514473.1:p.Leu954Arg
ENST00000685018.1:c.35T>G	ENSP00000510194.1:p.Leu12Arg
ENST00000687278.1:c.878T>G	ENSP00000509593.1:p.Leu293Arg
ENST00000003084.11:c.3287T>G MANE Select	ENSP00000003084.6:p.Leu1096Arg
ENST00000647720.1:c.937T>G
ENST00000648260.1:c.2069T>G	ENSP00000497957.1:p.Leu690Arg
ENST00000649406.1:c.3104T>G	ENSP00000497965.1:p.Leu1035Arg
ENST00000649781.1:c.3104T>G	ENSP00000497203.1:p.Leu1035Arg
ENST00000003084.10:c.3287T>G	ENSP00000003084.6:p.Leu1096Arg
ENST00000426809.5:c.3197T>G	ENSP00000389119.1:p.Leu1066Arg
ENST00000468795.1:c.112T>G
NM_000492.3:c.3287T>G , LRG_663t1:c.3287T>G	NP_000483.3:p.Leu1096Arg
XM_011515751.1:c.3377T>G	XP_011514053.1:p.Leu1126Arg
XM_011515752.1:c.3377T>G	XP_011514054.1:p.Leu1126Arg
XM_011515753.1:c.3044T>G	XP_011514055.1:p.Leu1015Arg
XM_011515754.1:c.3044T>G	XP_011514056.1:p.Leu1015Arg
NM_000492.4:c.3287T>G MANE Select	NP_000483.3:p.Leu1096Arg