Canonical Allele Identifier: CA368981756

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2637481
• ClinVar RCV Id: RCV003404779
• MyVariant Identifiers: chr7:g.117304748C>T (hg19) ; chr7:g.117664694C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664694C>T , CM000669.2:g.117664694C>T	GRCh38
NC_000007.13:g.117304748C>T , CM000669.1:g.117304748C>T	GRCh37
NC_000007.12:g.117091984C>T	NCBI36
NG_016465.4:g.203911C>T , LRG_663:g.203911C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*179C>T	ENSP00000497673.2:n.*179C>T
ENST00000647978.2:c.*3684C>T	ENSP00000497658.1:n.*3684C>T
ENST00000649781.2:c.3787C>T	ENSP00000497203.1:p.Leu1263Phe
ENST00000685018.2:c.*183C>T	ENSP00000510194.2:n.*183C>T
ENST00000687278.2:c.*623C>T	ENSP00000509593.2:n.*623C>T
ENST00000699585.1:c.*179C>T	ENSP00000514456.1:n.*179C>T
ENST00000699598.1:c.3970C>T	ENSP00000514467.1:p.Leu1324Phe
ENST00000699599.1:c.*183C>T	ENSP00000514468.1:n.*183C>T
ENST00000699600.1:c.*631C>T	ENSP00000514469.1:n.*631C>T
ENST00000699601.1:c.*2345C>T	ENSP00000514470.1:n.*2345C>T
ENST00000699602.1:c.3964C>T	ENSP00000514471.1:p.Leu1322Phe
ENST00000699604.1:c.*3794C>T	ENSP00000514472.1:n.*3794C>T
ENST00000699605.1:c.3544C>T	ENSP00000514473.1:p.Leu1182Phe
ENST00000699606.1:n.2138C>T
ENST00000685018.1:c.834C>T	ENSP00000510194.1:n.834C>T
ENST00000687278.1:c.1757C>T	ENSP00000509593.1:n.1757C>T
ENST00000689011.1:c.552C>T
ENST00000003084.11:c.3970C>T MANE Select	ENSP00000003084.6:p.Leu1324Phe
ENST00000647720.1:c.1420C>T
ENST00000649781.1:c.3787C>T	ENSP00000497203.1:p.Leu1263Phe
ENST00000003084.10:c.3970C>T	ENSP00000003084.6:p.Leu1324Phe
ENST00000426809.5:c.3880C>T	ENSP00000389119.1:p.Leu1294Phe
ENST00000600166.1:c.96C>T
NM_000492.3:c.3970C>T , LRG_663t1:c.3970C>T	NP_000483.3:p.Leu1324Phe
XM_011515751.1:c.4060C>T	XP_011514053.1:p.Leu1354Phe
XM_011515752.1:c.4060C>T	XP_011514054.1:p.Leu1354Phe
XM_011515753.1:c.3727C>T	XP_011514055.1:p.Leu1243Phe
XM_011515754.1:c.3727C>T	XP_011514056.1:p.Leu1243Phe
NM_000492.4:c.3970C>T MANE Select	NP_000483.3:p.Leu1324Phe