Canonical Allele Identifier: CA353712

Gene: CFTR

Linked Data

• PubMed: PMID:7679367

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.[117540305C>A;117540309C>A] , CM000669.2:g.[117540305C>A;117540309C>A]	GRCh38
NC_000007.13:g.[117180359C>A;117180363C>A] , CM000669.1:g.[117180359C>A;117180363C>A]	GRCh37
NC_000007.12:g.[116967595C>A;116967599C>A]	NCBI36
NG_016465.4:g.[79522C>A;79526C>A] , LRG_663:g.[79522C>A;79526C>A]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.[1075C>A;1079C>A]	ENSP00000497673.2:p.[Gln359Lys;Thr360Lys]
ENST00000647978.2:c.[*972C>A;*976C>A]	ENSP00000497658.1:n.[*972C>A;*976C>A]
ENST00000649781.2:c.[1075C>A;1079C>A]	ENSP00000497203.1:p.[Gln359Lys;Thr360Lys]
ENST00000685018.2:c.[1075C>A;1079C>A]	ENSP00000510194.2:p.[Gln359Lys;Thr360Lys]
ENST00000687278.2:c.[1075C>A;1079C>A]	ENSP00000509593.2:p.[Gln359Lys;Thr360Lys]
ENST00000699585.1:c.[1075C>A;1079C>A]	ENSP00000514456.1:p.[Gln359Lys;Thr360Lys]
ENST00000699596.1:c.[1075C>A;1079C>A]	ENSP00000514465.1:p.[Gln359Lys;Thr360Lys]
ENST00000699597.1:c.[1075C>A;1079C>A]	ENSP00000514466.1:p.[Gln359Lys;Thr360Lys]
ENST00000699598.1:c.[1075C>A;1079C>A]	ENSP00000514467.1:p.[Gln359Lys;Thr360Lys]
ENST00000699599.1:c.[1075C>A;1079C>A]	ENSP00000514468.1:p.[Gln359Lys;Thr360Lys]
ENST00000699600.1:c.[1075C>A;1079C>A]	ENSP00000514469.1:p.[Gln359Lys;Thr360Lys]
ENST00000699601.1:c.[1075C>A;1079C>A]	ENSP00000514470.1:p.[Gln359Lys;Thr360Lys]
ENST00000699602.1:c.[1075C>A;1079C>A]	ENSP00000514471.1:p.[Gln359Lys;Thr360Lys]
ENST00000699604.1:c.[*899C>A;*903C>A]	ENSP00000514472.1:n.[*899C>A;*903C>A]
ENST00000699605.1:c.[832C>A;836C>A]	ENSP00000514473.1:p.[Gln278Lys;Thr279Lys]
ENST00000003084.11:c.[1075C>A;1079C>A] MANE Select	ENSP00000003084.6:p.[Gln359Lys;Thr360Lys]
ENST00000647978.1:c.[*972C>A;*976C>A]	ENSP00000497658.1:n.[*972C>A;*976C>A]
ENST00000648260.1:c.[1075C>A;1079C>A]	ENSP00000497957.1:p.[Gln359Lys;Thr360Lys]
ENST00000649406.1:c.[1075C>A;1079C>A]	ENSP00000497965.1:p.[Gln359Lys;Thr360Lys]
ENST00000649781.1:c.[1075C>A;1079C>A]	ENSP00000497203.1:p.[Gln359Lys;Thr360Lys]
ENST00000673785.1:c.[832C>A;836C>A]	ENSP00000501235.1:p.[Gln278Lys;Thr279Lys]
ENST00000003084.10:c.[1075C>A;1079C>A]	ENSP00000003084.6:p.[Gln359Lys;Thr360Lys]
ENST00000426809.5:c.[985C>A;989C>A]	ENSP00000389119.1:p.[Gln329Lys;Thr330Lys]
NM_000492.3:c.[1075C>A;1079C>A] , LRG_663t1:c.[1075C>A;1079C>A]	NP_000483.3:p.[Gln359Lys;Thr360Lys]
XM_011515751.1:c.[1165C>A;1169C>A]	XP_011514053.1:p.[Gln389Lys;Thr390Lys]
XM_011515752.1:c.[1165C>A;1169C>A]	XP_011514054.1:p.[Gln389Lys;Thr390Lys]
XM_011515753.1:c.[832C>A;836C>A]	XP_011514055.1:p.[Gln278Lys;Thr279Lys]
XM_011515754.1:c.[832C>A;836C>A]	XP_011514056.1:p.[Gln278Lys;Thr279Lys]
NM_000492.4:c.[1075C>A;1079C>A] MANE Select	NP_000483.3:p.[Gln359Lys;Thr360Lys]