Canonical Allele Identifier: CA326638

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53362
• ClinVar RCV Id: RCV000577606
• dbSNP Id: rs397508286
• ExAC: 7:117230457 A / T
• gnomAD v2: 7-117230457-A-T
• gnomAD v4: 7-117590403-A-T
• MyVariant Identifiers: chr7:g.117230457A>T (hg19) ; chr7:g.117590403A>T (hg38)
• PubMed: PMID:9383031

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117590403A>T , CM000669.2:g.117590403A>T	GRCh38
NC_000007.13:g.117230457A>T , CM000669.1:g.117230457A>T	GRCh37
NC_000007.12:g.117017693A>T	NCBI36
NG_016465.4:g.129620A>T , LRG_663:g.129620A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1730A>T	ENSP00000497673.2:p.Tyr577Phe
ENST00000647978.2:c.*1444A>T	ENSP00000497658.1:n.*1444A>T
ENST00000649781.2:c.1547A>T	ENSP00000497203.1:p.Tyr516Phe
ENST00000685018.2:c.1730A>T	ENSP00000510194.2:p.Tyr577Phe
ENST00000687278.2:c.1730A>T	ENSP00000509593.2:p.Tyr577Phe
ENST00000699585.1:c.1730A>T	ENSP00000514456.1:p.Tyr577Phe
ENST00000699598.1:c.1730A>T	ENSP00000514467.1:p.Tyr577Phe
ENST00000699599.1:c.1730A>T	ENSP00000514468.1:p.Tyr577Phe
ENST00000699600.1:c.1730A>T	ENSP00000514469.1:p.Tyr577Phe
ENST00000699601.1:c.*30A>T	ENSP00000514470.1:n.*30A>T
ENST00000699602.1:c.1730A>T	ENSP00000514471.1:p.Tyr577Phe
ENST00000699604.1:c.*1554A>T	ENSP00000514472.1:n.*1554A>T
ENST00000699605.1:c.1304A>T	ENSP00000514473.1:p.Tyr435Phe
ENST00000003084.11:c.1730A>T MANE Select	ENSP00000003084.6:p.Tyr577Phe
ENST00000647978.1:c.*1444A>T	ENSP00000497658.1:n.*1444A>T
ENST00000648260.1:c.1402-12423A>T	ENSP00000497957.1:n.1402-12423A>T
ENST00000649406.1:c.1547A>T	ENSP00000497965.1:p.Tyr516Phe
ENST00000649781.1:c.1547A>T	ENSP00000497203.1:p.Tyr516Phe
ENST00000003084.10:c.1730A>T	ENSP00000003084.6:p.Tyr577Phe
ENST00000426809.5:c.1640A>T	ENSP00000389119.1:p.Tyr547Phe
NM_000492.3:c.1730A>T , LRG_663t1:c.1730A>T	NP_000483.3:p.Tyr577Phe
XM_011515751.1:c.1820A>T	XP_011514053.1:p.Tyr607Phe
XM_011515752.1:c.1820A>T	XP_011514054.1:p.Tyr607Phe
XM_011515753.1:c.1487A>T	XP_011514055.1:p.Tyr496Phe
XM_011515754.1:c.1487A>T	XP_011514056.1:p.Tyr496Phe
NM_000492.4:c.1730A>T MANE Select	NP_000483.3:p.Tyr577Phe