Canonical Allele Identifier: CA368987391

Gene: CFTR

Linked Data

• gnomAD v4: 7-117603738-C-T
• MyVariant Identifiers: chr7:g.117243792C>T (hg19) ; chr7:g.117603738C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603738C>T , CM000669.2:g.117603738C>T	GRCh38
NC_000007.13:g.117243792C>T , CM000669.1:g.117243792C>T	GRCh37
NC_000007.12:g.117031028C>T	NCBI36
NG_016465.4:g.142955C>T , LRG_663:g.142955C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2864C>T	ENSP00000497673.2:p.Ser955Phe
ENST00000647978.2:c.*2578C>T	ENSP00000497658.1:n.*2578C>T
ENST00000649781.2:c.2681C>T	ENSP00000497203.1:p.Ser894Phe
ENST00000685018.2:c.2864C>T	ENSP00000510194.2:p.Ser955Phe
ENST00000687278.2:c.2864C>T	ENSP00000509593.2:p.Ser955Phe
ENST00000699585.1:c.2864C>T	ENSP00000514456.1:p.Ser955Phe
ENST00000699598.1:c.2864C>T	ENSP00000514467.1:p.Ser955Phe
ENST00000699599.1:c.2864C>T	ENSP00000514468.1:p.Ser955Phe
ENST00000699600.1:c.2864C>T	ENSP00000514469.1:p.Ser955Phe
ENST00000699601.1:c.*1164C>T	ENSP00000514470.1:n.*1164C>T
ENST00000699602.1:c.2864C>T	ENSP00000514471.1:p.Ser955Phe
ENST00000699604.1:c.*2688C>T	ENSP00000514472.1:n.*2688C>T
ENST00000699605.1:c.2438C>T	ENSP00000514473.1:p.Ser813Phe
ENST00000687278.1:c.455C>T	ENSP00000509593.1:p.Ser152Phe
ENST00000003084.11:c.2864C>T MANE Select	ENSP00000003084.6:p.Ser955Phe
ENST00000647720.1:c.514C>T
ENST00000648260.1:c.1646C>T	ENSP00000497957.1:p.Ser549Phe
ENST00000649406.1:c.2681C>T	ENSP00000497965.1:p.Ser894Phe
ENST00000649781.1:c.2681C>T	ENSP00000497203.1:p.Ser894Phe
ENST00000003084.10:c.2864C>T	ENSP00000003084.6:p.Ser955Phe
ENST00000426809.5:c.2774C>T	ENSP00000389119.1:p.Ser925Phe
NM_000492.3:c.2864C>T , LRG_663t1:c.2864C>T	NP_000483.3:p.Ser955Phe
XM_011515751.1:c.2954C>T	XP_011514053.1:p.Ser985Phe
XM_011515752.1:c.2954C>T	XP_011514054.1:p.Ser985Phe
XM_011515753.1:c.2621C>T	XP_011514055.1:p.Ser874Phe
XM_011515754.1:c.2621C>T	XP_011514056.1:p.Ser874Phe
NM_000492.4:c.2864C>T MANE Select	NP_000483.3:p.Ser955Phe