Canonical Allele Identifier: CA368981073

Gene: CFTR

Linked Data

• gnomAD v4: 7-117592536-C-T
• MyVariant Identifiers: chr7:g.117232590C>T (hg19) ; chr7:g.117592536C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592536C>T , CM000669.2:g.117592536C>T	GRCh38
NC_000007.13:g.117232590C>T , CM000669.1:g.117232590C>T	GRCh37
NC_000007.12:g.117019826C>T	NCBI36
NG_016465.4:g.131753C>T , LRG_663:g.131753C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2369C>T	ENSP00000497673.2:p.Ser790Phe
ENST00000647978.2:c.*2083C>T	ENSP00000497658.1:n.*2083C>T
ENST00000649781.2:c.2186C>T	ENSP00000497203.1:p.Ser729Phe
ENST00000685018.2:c.2369C>T	ENSP00000510194.2:p.Ser790Phe
ENST00000687278.2:c.2369C>T	ENSP00000509593.2:p.Ser790Phe
ENST00000699585.1:c.2369C>T	ENSP00000514456.1:p.Ser790Phe
ENST00000699598.1:c.2369C>T	ENSP00000514467.1:p.Ser790Phe
ENST00000699599.1:c.2369C>T	ENSP00000514468.1:p.Ser790Phe
ENST00000699600.1:c.2369C>T	ENSP00000514469.1:p.Ser790Phe
ENST00000699601.1:c.*669C>T	ENSP00000514470.1:n.*669C>T
ENST00000699602.1:c.2369C>T	ENSP00000514471.1:p.Ser790Phe
ENST00000699604.1:c.*2193C>T	ENSP00000514472.1:n.*2193C>T
ENST00000699605.1:c.1943C>T	ENSP00000514473.1:p.Ser648Phe
ENST00000003084.11:c.2369C>T MANE Select	ENSP00000003084.6:p.Ser790Phe
ENST00000647720.1:c.19C>T
ENST00000647978.1:c.*2083C>T	ENSP00000497658.1:n.*2083C>T
ENST00000648260.1:c.1402-10290C>T	ENSP00000497957.1:n.1402-10290C>T
ENST00000649406.1:c.2186C>T	ENSP00000497965.1:p.Ser729Phe
ENST00000649781.1:c.2186C>T	ENSP00000497203.1:p.Ser729Phe
ENST00000003084.10:c.2369C>T	ENSP00000003084.6:p.Ser790Phe
ENST00000426809.5:c.2279C>T	ENSP00000389119.1:p.Ser760Phe
NM_000492.3:c.2369C>T , LRG_663t1:c.2369C>T	NP_000483.3:p.Ser790Phe
XM_011515751.1:c.2459C>T	XP_011514053.1:p.Ser820Phe
XM_011515752.1:c.2459C>T	XP_011514054.1:p.Ser820Phe
XM_011515753.1:c.2126C>T	XP_011514055.1:p.Ser709Phe
XM_011515754.1:c.2126C>T	XP_011514056.1:p.Ser709Phe
NM_000492.4:c.2369C>T MANE Select	NP_000483.3:p.Ser790Phe