Canonical Allele Identifier: CA326973

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117606694T>C , CM000669.2:g.117606694T>C	GRCh38
NC_000007.13:g.117246748T>C , CM000669.1:g.117246748T>C	GRCh37
NC_000007.12:g.117033984T>C	NCBI36
NG_016465.4:g.145911T>C , LRG_663:g.145911T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.2929T>C MANE Select	NP_000483.3:p.Ser977Pro
ENST00000003084.11:c.2929T>C MANE Select	ENSP00000003084.6:p.Ser977Pro
NM_000492.3:c.2929T>C , LRG_663t1:c.2929T>C	NP_000483.3:p.Ser977Pro
ENST00000003084.10:c.2929T>C	ENSP00000003084.6:p.Ser977Pro
ENST00000426809.5:c.2839T>C	ENSP00000389119.1:p.Ser947Pro
ENST00000647720.1:c.579T>C
ENST00000647720.2:c.2929T>C	ENSP00000497673.2:p.Ser977Pro
ENST00000647978.2:c.*2643T>C	ENSP00000497658.1:n.*2643T>C
ENST00000648260.1:c.1711T>C	ENSP00000497957.1:p.Ser571Pro
ENST00000649406.1:c.2746T>C	ENSP00000497965.1:p.Ser916Pro
ENST00000649781.1:c.2746T>C	ENSP00000497203.1:p.Ser916Pro
ENST00000649781.2:c.2746T>C	ENSP00000497203.1:p.Ser916Pro
ENST00000685018.2:c.2929T>C	ENSP00000510194.2:p.Ser977Pro
ENST00000687278.1:c.520T>C	ENSP00000509593.1:p.Ser174Pro
ENST00000687278.2:c.2929T>C	ENSP00000509593.2:p.Ser977Pro
ENST00000699585.1:c.2929T>C	ENSP00000514456.1:p.Ser977Pro
ENST00000699598.1:c.2929T>C	ENSP00000514467.1:p.Ser977Pro
ENST00000699599.1:c.2929T>C	ENSP00000514468.1:p.Ser977Pro
ENST00000699600.1:c.2929T>C	ENSP00000514469.1:p.Ser977Pro
ENST00000699601.1:c.*1229T>C	ENSP00000514470.1:n.*1229T>C
ENST00000699602.1:c.2929T>C	ENSP00000514471.1:p.Ser977Pro
ENST00000699604.1:c.*2753T>C	ENSP00000514472.1:n.*2753T>C
ENST00000699605.1:c.2503T>C	ENSP00000514473.1:p.Ser835Pro
XM_011515751.1:c.3019T>C	XP_011514053.1:p.Ser1007Pro
XM_011515752.1:c.3019T>C	XP_011514054.1:p.Ser1007Pro
XM_011515753.1:c.2686T>C	XP_011514055.1:p.Ser896Pro
XM_011515754.1:c.2686T>C	XP_011514056.1:p.Ser896Pro