Canonical Allele Identifier: CA368974641

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282536A>C (hg19) ; chr7:g.117642482A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642482A>C , CM000669.2:g.117642482A>C	GRCh38
NC_000007.13:g.117282536A>C , CM000669.1:g.117282536A>C	GRCh37
NC_000007.12:g.117069772A>C	NCBI36
NG_016465.4:g.181699A>C , LRG_663:g.181699A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3562A>C	ENSP00000497673.2:p.Ile1188Leu
ENST00000647978.2:c.*3476A>C	ENSP00000497658.1:n.*3476A>C
ENST00000649781.2:c.3579A>C	ENSP00000497203.1:p.Leu1193Phe
ENST00000685018.2:c.3762A>C	ENSP00000510194.2:p.Leu1254Phe
ENST00000687278.2:c.*415A>C	ENSP00000509593.2:n.*415A>C
ENST00000699585.1:c.3562A>C	ENSP00000514456.1:p.Ile1188Leu
ENST00000699598.1:c.3762A>C	ENSP00000514467.1:p.Leu1254Phe
ENST00000699599.1:c.3762A>C	ENSP00000514468.1:p.Leu1254Phe
ENST00000699600.1:c.*423A>C	ENSP00000514469.1:n.*423A>C
ENST00000699601.1:c.*2137A>C	ENSP00000514470.1:n.*2137A>C
ENST00000699602.1:c.3756A>C	ENSP00000514471.1:p.Leu1252Phe
ENST00000699604.1:c.*3586A>C	ENSP00000514472.1:n.*3586A>C
ENST00000699605.1:c.3336A>C	ENSP00000514473.1:p.Leu1112Phe
ENST00000685018.1:c.510A>C	ENSP00000510194.1:p.Leu170Phe
ENST00000687278.1:c.1549A>C	ENSP00000509593.1:n.1549A>C
ENST00000689011.1:c.344A>C
ENST00000003084.11:c.3762A>C MANE Select	ENSP00000003084.6:p.Leu1254Phe
ENST00000647720.1:c.1212A>C
ENST00000649781.1:c.3579A>C	ENSP00000497203.1:p.Leu1193Phe
ENST00000003084.10:c.3762A>C	ENSP00000003084.6:p.Leu1254Phe
ENST00000426809.5:c.3672A>C	ENSP00000389119.1:p.Leu1224Phe
NM_000492.3:c.3762A>C , LRG_663t1:c.3762A>C	NP_000483.3:p.Leu1254Phe
XM_011515751.1:c.3852A>C	XP_011514053.1:p.Leu1284Phe
XM_011515752.1:c.3852A>C	XP_011514054.1:p.Leu1284Phe
XM_011515753.1:c.3519A>C	XP_011514055.1:p.Leu1173Phe
XM_011515754.1:c.3519A>C	XP_011514056.1:p.Leu1173Phe
NM_000492.4:c.3762A>C MANE Select	NP_000483.3:p.Leu1254Phe