Canonical Allele Identifier: CA457230305

Gene: CFTR

Linked Data

• ClinVar Variation Id: 595029
• ClinVar RCV Id: RCV000730453
• dbSNP Id: rs1562928908
• MyVariant Identifiers: chr7:g.117304814C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664760C>T , CM000669.2:g.117664760C>T	GRCh38
NC_000007.13:g.117304814C>T , CM000669.1:g.117304814C>T	GRCh37
NC_000007.12:g.117092050C>T	NCBI36
NG_016465.4:g.203977C>T , LRG_663:g.203977C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*245C>T	ENSP00000497673.2:n.*245C>T
ENST00000647978.2:c.*3750C>T	ENSP00000497658.1:n.*3750C>T
ENST00000649781.2:c.3853C>T	ENSP00000497203.1:p.Leu1285=
ENST00000685018.2:c.*249C>T	ENSP00000510194.2:n.*249C>T
ENST00000687278.2:c.*689C>T	ENSP00000509593.2:n.*689C>T
ENST00000699585.1:c.*245C>T	ENSP00000514456.1:n.*245C>T
ENST00000699598.1:c.4036C>T	ENSP00000514467.1:p.Leu1346=
ENST00000699599.1:c.*249C>T	ENSP00000514468.1:n.*249C>T
ENST00000699600.1:c.*697C>T	ENSP00000514469.1:n.*697C>T
ENST00000699601.1:c.*2411C>T	ENSP00000514470.1:n.*2411C>T
ENST00000699602.1:c.4030C>T	ENSP00000514471.1:p.Leu1344=
ENST00000699604.1:c.*3860C>T	ENSP00000514472.1:n.*3860C>T
ENST00000699605.1:c.3610C>T	ENSP00000514473.1:p.Leu1204=
ENST00000699606.1:n.2204C>T
ENST00000685018.1:c.900C>T	ENSP00000510194.1:n.900C>T
ENST00000687278.1:c.1823C>T	ENSP00000509593.1:n.1823C>T
ENST00000689011.1:c.618C>T
ENST00000003084.11:c.4036C>T MANE Select	ENSP00000003084.6:p.Leu1346=
ENST00000647720.1:c.1486C>T
ENST00000649781.1:c.3853C>T	ENSP00000497203.1:p.Leu1285=
ENST00000003084.10:c.4036C>T	ENSP00000003084.6:p.Leu1346=
ENST00000426809.5:c.3946C>T	ENSP00000389119.1:p.Leu1316=
ENST00000600166.1:c.162C>T
NM_000492.3:c.4036C>T , LRG_663t1:c.4036C>T	NP_000483.3:p.Leu1346=
XM_011515751.1:c.4126C>T	XP_011514053.1:p.Leu1376=
XM_011515752.1:c.4126C>T	XP_011514054.1:p.Leu1376=
XM_011515753.1:c.3793C>T	XP_011514055.1:p.Leu1265=
XM_011515754.1:c.3793C>T	XP_011514056.1:p.Leu1265=
NM_000492.4:c.4036C>T MANE Select	NP_000483.3:p.Leu1346=