Canonical Allele Identifier: CA4451614

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1737285
• ClinVar RCV Id: RCV002321204 ; RCV003146543
• dbSNP Id: rs777147679
• ExAC: 7:117304818 G / A
• gnomAD v2: 7-117304818-G-A
• gnomAD v4: 7-117664764-G-A
• MyVariant Identifiers: chr7:g.117304818G>A (hg19) ; chr7:g.117664764G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664764G>A , CM000669.2:g.117664764G>A	GRCh38
NC_000007.13:g.117304818G>A , CM000669.1:g.117304818G>A	GRCh37
NC_000007.12:g.117092054G>A	NCBI36
NG_016465.4:g.203981G>A , LRG_663:g.203981G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*249G>A	ENSP00000497673.2:n.*249G>A
ENST00000647978.2:c.*3754G>A	ENSP00000497658.1:n.*3754G>A
ENST00000649781.2:c.3857G>A	ENSP00000497203.1:p.Ser1286Asn
ENST00000685018.2:c.*253G>A	ENSP00000510194.2:n.*253G>A
ENST00000687278.2:c.*693G>A	ENSP00000509593.2:n.*693G>A
ENST00000699585.1:c.*249G>A	ENSP00000514456.1:n.*249G>A
ENST00000699598.1:c.4040G>A	ENSP00000514467.1:p.Ser1347Asn
ENST00000699599.1:c.*253G>A	ENSP00000514468.1:n.*253G>A
ENST00000699600.1:c.*701G>A	ENSP00000514469.1:n.*701G>A
ENST00000699601.1:c.*2415G>A	ENSP00000514470.1:n.*2415G>A
ENST00000699602.1:c.4034G>A	ENSP00000514471.1:p.Ser1345Asn
ENST00000699604.1:c.*3864G>A	ENSP00000514472.1:n.*3864G>A
ENST00000699605.1:c.3614G>A	ENSP00000514473.1:p.Ser1205Asn
ENST00000699606.1:n.2208G>A
ENST00000685018.1:c.904G>A	ENSP00000510194.1:n.904G>A
ENST00000687278.1:c.1827G>A	ENSP00000509593.1:n.1827G>A
ENST00000689011.1:c.622G>A
ENST00000003084.11:c.4040G>A MANE Select	ENSP00000003084.6:p.Ser1347Asn
ENST00000647720.1:c.1490G>A
ENST00000649781.1:c.3857G>A	ENSP00000497203.1:p.Ser1286Asn
ENST00000003084.10:c.4040G>A	ENSP00000003084.6:p.Ser1347Asn
ENST00000426809.5:c.3950G>A	ENSP00000389119.1:p.Ser1317Asn
ENST00000600166.1:c.166G>A
NM_000492.3:c.4040G>A , LRG_663t1:c.4040G>A	NP_000483.3:p.Ser1347Asn
XM_011515751.1:c.4130G>A	XP_011514053.1:p.Ser1377Asn
XM_011515752.1:c.4130G>A	XP_011514054.1:p.Ser1377Asn
XM_011515753.1:c.3797G>A	XP_011514055.1:p.Ser1266Asn
XM_011515754.1:c.3797G>A	XP_011514056.1:p.Ser1266Asn
NM_000492.4:c.4040G>A MANE Select	NP_000483.3:p.Ser1347Asn