Canonical Allele Identifier: CA457227441

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1145291
• ClinVar RCV Id: RCV001484069
• dbSNP Id: rs979121392
• MyVariant Identifiers: chr7:g.117230459C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117590405C>T , CM000669.2:g.117590405C>T	GRCh38
NC_000007.13:g.117230459C>T , CM000669.1:g.117230459C>T	GRCh37
NC_000007.12:g.117017695C>T	NCBI36
NG_016465.4:g.129622C>T , LRG_663:g.129622C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1732C>T	ENSP00000497673.2:p.Leu578=
ENST00000647978.2:c.*1446C>T	ENSP00000497658.1:n.*1446C>T
ENST00000649781.2:c.1549C>T	ENSP00000497203.1:p.Leu517=
ENST00000685018.2:c.1732C>T	ENSP00000510194.2:p.Leu578=
ENST00000687278.2:c.1732C>T	ENSP00000509593.2:p.Leu578=
ENST00000699585.1:c.1732C>T	ENSP00000514456.1:p.Leu578=
ENST00000699598.1:c.1732C>T	ENSP00000514467.1:p.Leu578=
ENST00000699599.1:c.1732C>T	ENSP00000514468.1:p.Leu578=
ENST00000699600.1:c.1732C>T	ENSP00000514469.1:p.Leu578=
ENST00000699601.1:c.*32C>T	ENSP00000514470.1:n.*32C>T
ENST00000699602.1:c.1732C>T	ENSP00000514471.1:p.Leu578=
ENST00000699604.1:c.*1556C>T	ENSP00000514472.1:n.*1556C>T
ENST00000699605.1:c.1306C>T	ENSP00000514473.1:p.Leu436=
ENST00000003084.11:c.1732C>T MANE Select	ENSP00000003084.6:p.Leu578=
ENST00000647978.1:c.*1446C>T	ENSP00000497658.1:n.*1446C>T
ENST00000648260.1:c.1402-12421C>T	ENSP00000497957.1:n.1402-12421C>T
ENST00000649406.1:c.1549C>T	ENSP00000497965.1:p.Leu517=
ENST00000649781.1:c.1549C>T	ENSP00000497203.1:p.Leu517=
ENST00000003084.10:c.1732C>T	ENSP00000003084.6:p.Leu578=
ENST00000426809.5:c.1642C>T	ENSP00000389119.1:p.Leu548=
NM_000492.3:c.1732C>T , LRG_663t1:c.1732C>T	NP_000483.3:p.Leu578=
XM_011515751.1:c.1822C>T	XP_011514053.1:p.Leu608=
XM_011515752.1:c.1822C>T	XP_011514054.1:p.Leu608=
XM_011515753.1:c.1489C>T	XP_011514055.1:p.Leu497=
XM_011515754.1:c.1489C>T	XP_011514056.1:p.Leu497=
NM_000492.4:c.1732C>T MANE Select	NP_000483.3:p.Leu578=