Canonical Allele Identifier: CA368984825

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1739675
• ClinVar RCV Id: RCV002332012
• MyVariant Identifiers: chr7:g.117307038C>G (hg19) ; chr7:g.117666984C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666984C>G , CM000669.2:g.117666984C>G	GRCh38
NC_000007.13:g.117307038C>G , CM000669.1:g.117307038C>G	GRCh37
NC_000007.12:g.117094274C>G	NCBI36
NG_016465.4:g.206201C>G , LRG_663:g.206201C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*528C>G	ENSP00000497673.2:n.*528C>G
ENST00000647978.2:c.*4033C>G	ENSP00000497658.1:n.*4033C>G
ENST00000649781.2:c.4136C>G	ENSP00000497203.1:p.Ala1379Gly
ENST00000685018.2:c.*532C>G	ENSP00000510194.2:n.*532C>G
ENST00000687278.2:c.*896-618C>G	ENSP00000509593.2:n.*896-618C>G
ENST00000699585.1:c.*788C>G	ENSP00000514456.1:n.*788C>G
ENST00000699598.1:c.*25C>G	ENSP00000514467.1:n.*25C>G
ENST00000699599.1:c.*532C>G	ENSP00000514468.1:n.*532C>G
ENST00000699600.1:c.*904-618C>G	ENSP00000514469.1:n.*904-618C>G
ENST00000699601.1:c.*2694C>G	ENSP00000514470.1:n.*2694C>G
ENST00000699602.1:c.4313C>G	ENSP00000514471.1:p.Ala1438Gly
ENST00000699604.1:c.*4143C>G	ENSP00000514472.1:n.*4143C>G
ENST00000699605.1:c.3893C>G	ENSP00000514473.1:p.Ala1298Gly
ENST00000699606.1:n.3830C>G
ENST00000685018.1:c.1183C>G	ENSP00000510194.1:n.1183C>G
ENST00000687278.1:c.2030-618C>G	ENSP00000509593.1:n.2030-618C>G
ENST00000689011.1:c.1161C>G
ENST00000003084.11:c.4319C>G MANE Select	ENSP00000003084.6:p.Ala1440Gly
ENST00000647720.1:c.1769C>G
ENST00000649781.1:c.4136C>G	ENSP00000497203.1:p.Ala1379Gly
ENST00000003084.10:c.4319C>G	ENSP00000003084.6:p.Ala1440Gly
ENST00000426809.5:c.4229C>G	ENSP00000389119.1:p.Ala1410Gly
ENST00000600166.1:c.368+1420C>G
NM_000492.3:c.4319C>G , LRG_663t1:c.4319C>G	NP_000483.3:p.Ala1440Gly
XM_011515751.1:c.4409C>G	XP_011514053.1:p.Ala1470Gly
XM_011515753.1:c.4076C>G	XP_011514055.1:p.Ala1359Gly
XM_011515754.1:c.4076C>G	XP_011514056.1:p.Ala1359Gly
NM_000492.4:c.4319C>G MANE Select	NP_000483.3:p.Ala1440Gly