Canonical Allele Identifier: CA368985158

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2562515
• ClinVar RCV Id: RCV003296508
• MyVariant Identifiers: chr7:g.117307089A>T (hg19) ; chr7:g.117667035A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117667035A>T , CM000669.2:g.117667035A>T	GRCh38
NC_000007.13:g.117307089A>T , CM000669.1:g.117307089A>T	GRCh37
NC_000007.12:g.117094325A>T	NCBI36
NG_016465.4:g.206252A>T , LRG_663:g.206252A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*579A>T	ENSP00000497673.2:n.*579A>T
ENST00000647978.2:c.*4084A>T	ENSP00000497658.1:n.*4084A>T
ENST00000649781.2:c.4187A>T	ENSP00000497203.1:p.Lys1396Met
ENST00000685018.2:c.*583A>T	ENSP00000510194.2:n.*583A>T
ENST00000687278.2:c.*896-567A>T	ENSP00000509593.2:n.*896-567A>T
ENST00000699585.1:c.*839A>T	ENSP00000514456.1:n.*839A>T
ENST00000699598.1:c.*76A>T	ENSP00000514467.1:n.*76A>T
ENST00000699599.1:c.*583A>T	ENSP00000514468.1:n.*583A>T
ENST00000699600.1:c.*904-567A>T	ENSP00000514469.1:n.*904-567A>T
ENST00000699601.1:c.*2745A>T	ENSP00000514470.1:n.*2745A>T
ENST00000699602.1:c.4364A>T	ENSP00000514471.1:p.Lys1455Met
ENST00000699604.1:c.*4194A>T	ENSP00000514472.1:n.*4194A>T
ENST00000699605.1:c.3944A>T	ENSP00000514473.1:p.Lys1315Met
ENST00000699606.1:n.3881A>T
ENST00000685018.1:c.1234A>T	ENSP00000510194.1:n.1234A>T
ENST00000687278.1:c.2030-567A>T	ENSP00000509593.1:n.2030-567A>T
ENST00000689011.1:c.1212A>T
ENST00000003084.11:c.4370A>T MANE Select	ENSP00000003084.6:p.Lys1457Met
ENST00000647720.1:c.1820A>T
ENST00000649781.1:c.4187A>T	ENSP00000497203.1:p.Lys1396Met
ENST00000003084.10:c.4370A>T	ENSP00000003084.6:p.Lys1457Met
ENST00000426809.5:c.4280A>T	ENSP00000389119.1:p.Lys1427Met
ENST00000600166.1:c.368+1471A>T
NM_000492.3:c.4370A>T , LRG_663t1:c.4370A>T	NP_000483.3:p.Lys1457Met
XM_011515751.1:c.4460A>T	XP_011514053.1:p.Lys1487Met
XM_011515753.1:c.4127A>T	XP_011514055.1:p.Lys1376Met
XM_011515754.1:c.4127A>T	XP_011514056.1:p.Lys1376Met
NM_000492.4:c.4370A>T MANE Select	NP_000483.3:p.Lys1457Met