Canonical Allele Identifier: CA368978266

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117292934G>C (hg19) ; chr7:g.117652880G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652880G>C , CM000669.2:g.117652880G>C	GRCh38
NC_000007.13:g.117292934G>C , CM000669.1:g.117292934G>C	GRCh37
NC_000007.12:g.117080170G>C	NCBI36
NG_016465.4:g.192097G>C , LRG_663:g.192097G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*121G>C	ENSP00000497673.2:n.*121G>C
ENST00000647978.2:c.*3626G>C	ENSP00000497658.1:n.*3626G>C
ENST00000649781.2:c.3729G>C	ENSP00000497203.1:p.Leu1243Phe
ENST00000685018.2:c.*125G>C	ENSP00000510194.2:n.*125G>C
ENST00000687278.2:c.*565G>C	ENSP00000509593.2:n.*565G>C
ENST00000699585.1:c.*121G>C	ENSP00000514456.1:n.*121G>C
ENST00000699598.1:c.3912G>C	ENSP00000514467.1:p.Leu1304Phe
ENST00000699599.1:c.*125G>C	ENSP00000514468.1:n.*125G>C
ENST00000699600.1:c.*573G>C	ENSP00000514469.1:n.*573G>C
ENST00000699601.1:c.*2287G>C	ENSP00000514470.1:n.*2287G>C
ENST00000699602.1:c.3906G>C	ENSP00000514471.1:p.Leu1302Phe
ENST00000699604.1:c.*3736G>C	ENSP00000514472.1:n.*3736G>C
ENST00000699605.1:c.3486G>C	ENSP00000514473.1:p.Leu1162Phe
ENST00000699606.1:n.2080G>C
ENST00000685018.1:c.776G>C	ENSP00000510194.1:n.776G>C
ENST00000687278.1:c.1699G>C	ENSP00000509593.1:n.1699G>C
ENST00000689011.1:c.494G>C
ENST00000003084.11:c.3912G>C MANE Select	ENSP00000003084.6:p.Leu1304Phe
ENST00000647720.1:c.1362G>C
ENST00000649781.1:c.3729G>C	ENSP00000497203.1:p.Leu1243Phe
ENST00000003084.10:c.3912G>C	ENSP00000003084.6:p.Leu1304Phe
ENST00000426809.5:c.3822G>C	ENSP00000389119.1:p.Leu1274Phe
ENST00000600166.1:c.38G>C
NM_000492.3:c.3912G>C , LRG_663t1:c.3912G>C	NP_000483.3:p.Leu1304Phe
XM_011515751.1:c.4002G>C	XP_011514053.1:p.Leu1334Phe
XM_011515752.1:c.4002G>C	XP_011514054.1:p.Leu1334Phe
XM_011515753.1:c.3669G>C	XP_011514055.1:p.Leu1223Phe
XM_011515754.1:c.3669G>C	XP_011514056.1:p.Leu1223Phe
NM_000492.4:c.3912G>C MANE Select	NP_000483.3:p.Leu1304Phe