Canonical Allele Identifier: CA327278

Gene: CFTR

Linked Data

• dbSNP Id: rs117400534
• MyVariant Identifiers: chr7:g.117282533G>C (hg19) ; chr7:g.117642479G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642479G>C , CM000669.2:g.117642479G>C	GRCh38
NC_000007.13:g.117282533G>C , CM000669.1:g.117282533G>C	GRCh37
NC_000007.12:g.117069769G>C	NCBI36
NG_016465.4:g.181696G>C , LRG_663:g.181696G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3559G>C	ENSP00000497673.2:p.Val1187Leu
ENST00000647978.2:c.*3473G>C	ENSP00000497658.1:n.*3473G>C
ENST00000649781.2:c.3576G>C	ENSP00000497203.1:p.Leu1192Phe
ENST00000685018.2:c.3759G>C	ENSP00000510194.2:p.Leu1253Phe
ENST00000687278.2:c.*412G>C	ENSP00000509593.2:n.*412G>C
ENST00000699585.1:c.3559G>C	ENSP00000514456.1:p.Val1187Leu
ENST00000699598.1:c.3759G>C	ENSP00000514467.1:p.Leu1253Phe
ENST00000699599.1:c.3759G>C	ENSP00000514468.1:p.Leu1253Phe
ENST00000699600.1:c.*420G>C	ENSP00000514469.1:n.*420G>C
ENST00000699601.1:c.*2134G>C	ENSP00000514470.1:n.*2134G>C
ENST00000699602.1:c.3753G>C	ENSP00000514471.1:p.Leu1251Phe
ENST00000699604.1:c.*3583G>C	ENSP00000514472.1:n.*3583G>C
ENST00000699605.1:c.3333G>C	ENSP00000514473.1:p.Leu1111Phe
ENST00000685018.1:c.507G>C	ENSP00000510194.1:p.Leu169Phe
ENST00000687278.1:c.1546G>C	ENSP00000509593.1:n.1546G>C
ENST00000689011.1:c.341G>C
ENST00000003084.11:c.3759G>C MANE Select	ENSP00000003084.6:p.Leu1253Phe
ENST00000647720.1:c.1209G>C
ENST00000649781.1:c.3576G>C	ENSP00000497203.1:p.Leu1192Phe
ENST00000003084.10:c.3759G>C	ENSP00000003084.6:p.Leu1253Phe
ENST00000426809.5:c.3669G>C	ENSP00000389119.1:p.Leu1223Phe
NM_000492.3:c.3759G>C , LRG_663t1:c.3759G>C	NP_000483.3:p.Leu1253Phe
XM_011515751.1:c.3849G>C	XP_011514053.1:p.Leu1283Phe
XM_011515752.1:c.3849G>C	XP_011514054.1:p.Leu1283Phe
XM_011515753.1:c.3516G>C	XP_011514055.1:p.Leu1172Phe
XM_011515754.1:c.3516G>C	XP_011514056.1:p.Leu1172Phe
NM_000492.4:c.3759G>C MANE Select	NP_000483.3:p.Leu1253Phe