Canonical Allele Identifier: CA327078

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53671
• ClinVar RCV Id: RCV000577033 ; RCV000660829
• dbSNP Id: rs397508513
• MyVariant Identifiers: chr7:g.117251674A>C (hg19) ; chr7:g.117611620A>C (hg38)
• PubMed: PMID:7532150

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117611620A>C , CM000669.2:g.117611620A>C	GRCh38
NC_000007.13:g.117251674A>C , CM000669.1:g.117251674A>C	GRCh37
NC_000007.12:g.117038910A>C	NCBI36
NG_016465.4:g.150837A>C , LRG_663:g.150837A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3179A>C	ENSP00000497673.2:p.Lys1060Thr
ENST00000647978.2:c.*2893A>C	ENSP00000497658.1:n.*2893A>C
ENST00000649781.2:c.2996A>C	ENSP00000497203.1:p.Lys999Thr
ENST00000685018.2:c.3179A>C	ENSP00000510194.2:p.Lys1060Thr
ENST00000687278.2:c.3179A>C	ENSP00000509593.2:p.Lys1060Thr
ENST00000699585.1:c.3179A>C	ENSP00000514456.1:p.Lys1060Thr
ENST00000699598.1:c.3179A>C	ENSP00000514467.1:p.Lys1060Thr
ENST00000699599.1:c.3179A>C	ENSP00000514468.1:p.Lys1060Thr
ENST00000699600.1:c.3179A>C	ENSP00000514469.1:p.Lys1060Thr
ENST00000699601.1:c.*1479A>C	ENSP00000514470.1:n.*1479A>C
ENST00000699602.1:c.3179A>C	ENSP00000514471.1:p.Lys1060Thr
ENST00000699604.1:c.*3003A>C	ENSP00000514472.1:n.*3003A>C
ENST00000699605.1:c.2753A>C	ENSP00000514473.1:p.Lys918Thr
ENST00000687278.1:c.770A>C	ENSP00000509593.1:p.Lys257Thr
ENST00000003084.11:c.3179A>C MANE Select	ENSP00000003084.6:p.Lys1060Thr
ENST00000647720.1:c.829A>C
ENST00000648260.1:c.1961A>C	ENSP00000497957.1:p.Lys654Thr
ENST00000649406.1:c.2996A>C	ENSP00000497965.1:p.Lys999Thr
ENST00000649781.1:c.2996A>C	ENSP00000497203.1:p.Lys999Thr
ENST00000003084.10:c.3179A>C	ENSP00000003084.6:p.Lys1060Thr
ENST00000426809.5:c.3089A>C	ENSP00000389119.1:p.Lys1030Thr
ENST00000468795.1:c.4A>C
NM_000492.3:c.3179A>C , LRG_663t1:c.3179A>C	NP_000483.3:p.Lys1060Thr
XM_011515751.1:c.3269A>C	XP_011514053.1:p.Lys1090Thr
XM_011515752.1:c.3269A>C	XP_011514054.1:p.Lys1090Thr
XM_011515753.1:c.2936A>C	XP_011514055.1:p.Lys979Thr
XM_011515754.1:c.2936A>C	XP_011514056.1:p.Lys979Thr
NM_000492.4:c.3179A>C MANE Select	NP_000483.3:p.Lys1060Thr