Canonical Allele Identifier: CA368986383

Gene: CFTR

Linked Data

• dbSNP Id: rs61738523
• gnomAD v2: 7-117243593-C-G
• gnomAD v4: 7-117603539-C-G
• MyVariant Identifiers: chr7:g.117243593C>G (hg19) ; chr7:g.117603539C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603539C>G , CM000669.2:g.117603539C>G	GRCh38
NC_000007.13:g.117243593C>G , CM000669.1:g.117243593C>G	GRCh37
NC_000007.12:g.117030829C>G	NCBI36
NG_016465.4:g.142756C>G , LRG_663:g.142756C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2665C>G	ENSP00000497673.2:p.Leu889Val
ENST00000647978.2:c.*2379C>G	ENSP00000497658.1:n.*2379C>G
ENST00000649781.2:c.2482C>G	ENSP00000497203.1:p.Leu828Val
ENST00000685018.2:c.2665C>G	ENSP00000510194.2:p.Leu889Val
ENST00000687278.2:c.2665C>G	ENSP00000509593.2:p.Leu889Val
ENST00000699585.1:c.2665C>G	ENSP00000514456.1:p.Leu889Val
ENST00000699598.1:c.2665C>G	ENSP00000514467.1:p.Leu889Val
ENST00000699599.1:c.2665C>G	ENSP00000514468.1:p.Leu889Val
ENST00000699600.1:c.2665C>G	ENSP00000514469.1:p.Leu889Val
ENST00000699601.1:c.*965C>G	ENSP00000514470.1:n.*965C>G
ENST00000699602.1:c.2665C>G	ENSP00000514471.1:p.Leu889Val
ENST00000699604.1:c.*2489C>G	ENSP00000514472.1:n.*2489C>G
ENST00000699605.1:c.2239C>G	ENSP00000514473.1:p.Leu747Val
ENST00000687278.1:c.256C>G	ENSP00000509593.1:p.Leu86Val
ENST00000003084.11:c.2665C>G MANE Select	ENSP00000003084.6:p.Leu889Val
ENST00000647720.1:c.315C>G
ENST00000648260.1:c.1447C>G	ENSP00000497957.1:p.Leu483Val
ENST00000649406.1:c.2482C>G	ENSP00000497965.1:p.Leu828Val
ENST00000649781.1:c.2482C>G	ENSP00000497203.1:p.Leu828Val
ENST00000003084.10:c.2665C>G	ENSP00000003084.6:p.Leu889Val
ENST00000426809.5:c.2575C>G	ENSP00000389119.1:p.Leu859Val
NM_000492.3:c.2665C>G , LRG_663t1:c.2665C>G	NP_000483.3:p.Leu889Val
XM_011515751.1:c.2755C>G	XP_011514053.1:p.Leu919Val
XM_011515752.1:c.2755C>G	XP_011514054.1:p.Leu919Val
XM_011515753.1:c.2422C>G	XP_011514055.1:p.Leu808Val
XM_011515754.1:c.2422C>G	XP_011514056.1:p.Leu808Val
NM_000492.4:c.2665C>G MANE Select	NP_000483.3:p.Leu889Val