Canonical Allele Identifier: CA368983435

Gene: CFTR

Linked Data

• ClinVar Variation Id: 439083
• ClinVar RCV Id: RCV000506108 ; RCV002329206
• dbSNP Id: rs1554397584
• gnomAD v4: 7-117665484-C-G
• MyVariant Identifiers: chr7:g.117305538C>G (hg19) ; chr7:g.117665484C>G (hg38)
• PubMed: PMID:17890437

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665484C>G , CM000669.2:g.117665484C>G	GRCh38
NC_000007.13:g.117305538C>G , CM000669.1:g.117305538C>G	GRCh37
NC_000007.12:g.117092774C>G	NCBI36
NG_016465.4:g.204701C>G , LRG_663:g.204701C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*371C>G	ENSP00000497673.2:n.*371C>G
ENST00000647978.2:c.*3876C>G	ENSP00000497658.1:n.*3876C>G
ENST00000649781.2:c.3979C>G	ENSP00000497203.1:p.Leu1327Val
ENST00000685018.2:c.*375C>G	ENSP00000510194.2:n.*375C>G
ENST00000687278.2:c.*815C>G	ENSP00000509593.2:n.*815C>G
ENST00000699585.1:c.*371C>G	ENSP00000514456.1:n.*371C>G
ENST00000699598.1:c.4162C>G	ENSP00000514467.1:p.Leu1388Val
ENST00000699599.1:c.*375C>G	ENSP00000514468.1:n.*375C>G
ENST00000699600.1:c.*823C>G	ENSP00000514469.1:n.*823C>G
ENST00000699601.1:c.*2537C>G	ENSP00000514470.1:n.*2537C>G
ENST00000699602.1:c.4156C>G	ENSP00000514471.1:p.Leu1386Val
ENST00000699604.1:c.*3986C>G	ENSP00000514472.1:n.*3986C>G
ENST00000699605.1:c.3736C>G	ENSP00000514473.1:p.Leu1246Val
ENST00000699606.1:n.2330C>G
ENST00000685018.1:c.1026C>G	ENSP00000510194.1:n.1026C>G
ENST00000687278.1:c.1949C>G	ENSP00000509593.1:n.1949C>G
ENST00000689011.1:c.744C>G
ENST00000003084.11:c.4162C>G MANE Select	ENSP00000003084.6:p.Leu1388Val
ENST00000647720.1:c.1612C>G
ENST00000649781.1:c.3979C>G	ENSP00000497203.1:p.Leu1327Val
ENST00000003084.10:c.4162C>G	ENSP00000003084.6:p.Leu1388Val
ENST00000426809.5:c.4072C>G	ENSP00000389119.1:p.Leu1358Val
ENST00000600166.1:c.288C>G
NM_000492.3:c.4162C>G , LRG_663t1:c.4162C>G	NP_000483.3:p.Leu1388Val
XM_011515751.1:c.4252C>G	XP_011514053.1:p.Leu1418Val
XM_011515752.1:c.4252C>G	XP_011514054.1:p.Leu1418Val
XM_011515753.1:c.3919C>G	XP_011514055.1:p.Leu1307Val
XM_011515754.1:c.3919C>G	XP_011514056.1:p.Leu1307Val
NM_000492.4:c.4162C>G MANE Select	NP_000483.3:p.Leu1388Val