Canonical Allele Identifier: CA357860

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.[117603609C>T;117642451G>T] , CM000669.2:g.[117603609C>T;117642451G>T]	GRCh38
NC_000007.13:g.[117243663C>T;117282505G>T] , CM000669.1:g.[117243663C>T;117282505G>T]	GRCh37
NC_000007.12:g.[117030899C>T;117069741G>T]	NCBI36
NG_016465.4:g.[142826C>T;181668G>T] , LRG_663:g.[142826C>T;181668G>T]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.[2735C>T;3531G>T]	ENSP00000497673.2:p.[Ser912Leu;Gly1177=]
ENST00000647978.2:c.[*2449C>T;*3445G>T]	ENSP00000497658.1:n.[*2449C>T;*3445G>T]
ENST00000649781.2:c.[2552C>T;3548G>T]	ENSP00000497203.1:p.[Ser851Leu;Gly1183Val]
ENST00000685018.2:c.[2735C>T;3731G>T]	ENSP00000510194.2:p.[Ser912Leu;Gly1244Val]
ENST00000687278.2:c.[2735C>T;*384G>T]	ENSP00000509593.2:[p.Ser912Leu;n.*384G>T]
ENST00000699585.1:c.[2735C>T;3531G>T]	ENSP00000514456.1:p.[Ser912Leu;Gly1177=]
ENST00000699598.1:c.[2735C>T;3731G>T]	ENSP00000514467.1:p.[Ser912Leu;Gly1244Val]
ENST00000699599.1:c.[2735C>T;3731G>T]	ENSP00000514468.1:p.[Ser912Leu;Gly1244Val]
ENST00000699600.1:c.[2735C>T;*392G>T]	ENSP00000514469.1:[p.Ser912Leu;n.*392G>T]
ENST00000699601.1:c.[*1035C>T;*2106G>T]	ENSP00000514470.1:n.[*1035C>T;*2106G>T]
ENST00000699602.1:c.[2735C>T;3725G>T]	ENSP00000514471.1:p.[Ser912Leu;Gly1242Val]
ENST00000699604.1:c.[*2559C>T;*3555G>T]	ENSP00000514472.1:n.[*2559C>T;*3555G>T]
ENST00000699605.1:c.[2309C>T;3305G>T]	ENSP00000514473.1:p.[Ser770Leu;Gly1102Val]
ENST00000687278.1:c.[326C>T;1518G>T]	ENSP00000509593.1:[p.Ser109Leu;n.1518G>T]
ENST00000003084.11:c.[2735C>T;3731G>T] MANE Select	ENSP00000003084.6:p.[Ser912Leu;Gly1244Val]
ENST00000647720.1:c.[385C>T;1181G>T]
ENST00000649781.1:c.[2552C>T;3548G>T]	ENSP00000497203.1:p.[Ser851Leu;Gly1183Val]
ENST00000003084.10:c.[2735C>T;3731G>T]	ENSP00000003084.6:p.[Ser912Leu;Gly1244Val]
ENST00000426809.5:c.[2645C>T;3641G>T]	ENSP00000389119.1:p.[Ser882Leu;Gly1214Val]
NM_000492.3:c.[2735C>T;3731G>T] , LRG_663t1:c.[2735C>T;3731G>T]	NP_000483.3:p.[Ser912Leu;Gly1244Val]
XM_011515751.1:c.[2825C>T;3821G>T]	XP_011514053.1:p.[Ser942Leu;Gly1274Val]
XM_011515752.1:c.[2825C>T;3821G>T]	XP_011514054.1:p.[Ser942Leu;Gly1274Val]
XM_011515753.1:c.[2492C>T;3488G>T]	XP_011514055.1:p.[Ser831Leu;Gly1163Val]
XM_011515754.1:c.[2492C>T;3488G>T]	XP_011514056.1:p.[Ser831Leu;Gly1163Val]
NM_000492.4:c.[2735C>T;3731G>T] MANE Select	NP_000483.3:p.[Ser912Leu;Gly1244Val]