Canonical Allele Identifier: CA368976057

Gene: CFTR

Linked Data

• gnomAD v4: 7-117587797-T-A
• MyVariant Identifiers: chr7:g.117227851T>A (hg19) ; chr7:g.117587797T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117587797T>A , CM000669.2:g.117587797T>A	GRCh38
NC_000007.13:g.117227851T>A , CM000669.1:g.117227851T>A	GRCh37
NC_000007.12:g.117015087T>A	NCBI36
NG_016465.4:g.127014T>A , LRG_663:g.127014T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1643T>A	ENSP00000497673.2:p.Leu548Gln
ENST00000647978.2:c.*1357T>A	ENSP00000497658.1:n.*1357T>A
ENST00000649781.2:c.1460T>A	ENSP00000497203.1:p.Leu487Gln
ENST00000685018.2:c.1643T>A	ENSP00000510194.2:p.Leu548Gln
ENST00000687278.2:c.1643T>A	ENSP00000509593.2:p.Leu548Gln
ENST00000699585.1:c.1643T>A	ENSP00000514456.1:p.Leu548Gln
ENST00000699598.1:c.1643T>A	ENSP00000514467.1:p.Leu548Gln
ENST00000699599.1:c.1643T>A	ENSP00000514468.1:p.Leu548Gln
ENST00000699600.1:c.1643T>A	ENSP00000514469.1:p.Leu548Gln
ENST00000699601.1:c.1643T>A	ENSP00000514470.1:p.Leu548Gln
ENST00000699602.1:c.1643T>A	ENSP00000514471.1:p.Leu548Gln
ENST00000699604.1:c.*1467T>A	ENSP00000514472.1:n.*1467T>A
ENST00000699605.1:c.1217T>A	ENSP00000514473.1:p.Leu406Gln
ENST00000003084.11:c.1643T>A MANE Select	ENSP00000003084.6:p.Leu548Gln
ENST00000647978.1:c.*1357T>A	ENSP00000497658.1:n.*1357T>A
ENST00000648260.1:c.1402-15029T>A	ENSP00000497957.1:n.1402-15029T>A
ENST00000649406.1:c.1460T>A	ENSP00000497965.1:p.Leu487Gln
ENST00000649781.1:c.1460T>A	ENSP00000497203.1:p.Leu487Gln
ENST00000003084.10:c.1643T>A	ENSP00000003084.6:p.Leu548Gln
ENST00000426809.5:c.1553T>A	ENSP00000389119.1:p.Leu518Gln
NM_000492.3:c.1643T>A , LRG_663t1:c.1643T>A	NP_000483.3:p.Leu548Gln
XM_011515751.1:c.1733T>A	XP_011514053.1:p.Leu578Gln
XM_011515752.1:c.1733T>A	XP_011514054.1:p.Leu578Gln
XM_011515753.1:c.1400T>A	XP_011514055.1:p.Leu467Gln
XM_011515754.1:c.1400T>A	XP_011514056.1:p.Leu467Gln
NM_000492.4:c.1643T>A MANE Select	NP_000483.3:p.Leu548Gln