Canonical Allele Identifier: CA368984040

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1793586
• ClinVar RCV Id: RCV002437114
• dbSNP Id: rs1792099688
• gnomAD v4: 7-117595037-C-G
• MyVariant Identifiers: chr7:g.117235091C>G (hg19) ; chr7:g.117595037C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117595037C>G , CM000669.2:g.117595037C>G	GRCh38
NC_000007.13:g.117235091C>G , CM000669.1:g.117235091C>G	GRCh37
NC_000007.12:g.117022327C>G	NCBI36
NG_016465.4:g.134254C>G , LRG_663:g.134254C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2598C>G	ENSP00000497673.2:p.Cys866Trp
ENST00000647978.2:c.*2312C>G	ENSP00000497658.1:n.*2312C>G
ENST00000649781.2:c.2415C>G	ENSP00000497203.1:p.Cys805Trp
ENST00000685018.2:c.2598C>G	ENSP00000510194.2:p.Cys866Trp
ENST00000687278.2:c.2598C>G	ENSP00000509593.2:p.Cys866Trp
ENST00000699585.1:c.2598C>G	ENSP00000514456.1:p.Cys866Trp
ENST00000699598.1:c.2598C>G	ENSP00000514467.1:p.Cys866Trp
ENST00000699599.1:c.2598C>G	ENSP00000514468.1:p.Cys866Trp
ENST00000699600.1:c.2598C>G	ENSP00000514469.1:p.Cys866Trp
ENST00000699601.1:c.*898C>G	ENSP00000514470.1:n.*898C>G
ENST00000699602.1:c.2598C>G	ENSP00000514471.1:p.Cys866Trp
ENST00000699604.1:c.*2422C>G	ENSP00000514472.1:n.*2422C>G
ENST00000699605.1:c.2172C>G	ENSP00000514473.1:p.Cys724Trp
ENST00000687278.1:c.189C>G	ENSP00000509593.1:p.Cys63Trp
ENST00000003084.11:c.2598C>G MANE Select	ENSP00000003084.6:p.Cys866Trp
ENST00000647720.1:c.248C>G
ENST00000648260.1:c.1402-7789C>G	ENSP00000497957.1:n.1402-7789C>G
ENST00000649406.1:c.2415C>G	ENSP00000497965.1:p.Cys805Trp
ENST00000649781.1:c.2415C>G	ENSP00000497203.1:p.Cys805Trp
ENST00000003084.10:c.2598C>G	ENSP00000003084.6:p.Cys866Trp
ENST00000426809.5:c.2508C>G	ENSP00000389119.1:p.Cys836Trp
NM_000492.3:c.2598C>G , LRG_663t1:c.2598C>G	NP_000483.3:p.Cys866Trp
XM_011515751.1:c.2688C>G	XP_011514053.1:p.Cys896Trp
XM_011515752.1:c.2688C>G	XP_011514054.1:p.Cys896Trp
XM_011515753.1:c.2355C>G	XP_011514055.1:p.Cys785Trp
XM_011515754.1:c.2355C>G	XP_011514056.1:p.Cys785Trp
NM_000492.4:c.2598C>G MANE Select	NP_000483.3:p.Cys866Trp