Canonical Allele Identifier: CA164947375

Gene: CFTR

Linked Data

• dbSNP Id: rs937740224
• COSMIC: COSM5871655
• MyVariant Identifiers: chr7:g.117232010A>T (hg19) ; chr7:g.117591956A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117591956A>T , CM000669.2:g.117591956A>T	GRCh38
NC_000007.13:g.117232010A>T , CM000669.1:g.117232010A>T	GRCh37
NC_000007.12:g.117019246A>T	NCBI36
NG_016465.4:g.131173A>T , LRG_663:g.131173A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1789A>T	ENSP00000497673.2:p.Asn597Tyr
ENST00000647978.2:c.*1503A>T	ENSP00000497658.1:n.*1503A>T
ENST00000649781.2:c.1606A>T	ENSP00000497203.1:p.Asn536Tyr
ENST00000685018.2:c.1789A>T	ENSP00000510194.2:p.Asn597Tyr
ENST00000687278.2:c.1789A>T	ENSP00000509593.2:p.Asn597Tyr
ENST00000699585.1:c.1789A>T	ENSP00000514456.1:p.Asn597Tyr
ENST00000699598.1:c.1789A>T	ENSP00000514467.1:p.Asn597Tyr
ENST00000699599.1:c.1789A>T	ENSP00000514468.1:p.Asn597Tyr
ENST00000699600.1:c.1789A>T	ENSP00000514469.1:p.Asn597Tyr
ENST00000699601.1:c.*89A>T	ENSP00000514470.1:n.*89A>T
ENST00000699602.1:c.1789A>T	ENSP00000514471.1:p.Asn597Tyr
ENST00000699604.1:c.*1613A>T	ENSP00000514472.1:n.*1613A>T
ENST00000699605.1:c.1363A>T	ENSP00000514473.1:p.Asn455Tyr
ENST00000003084.11:c.1789A>T MANE Select	ENSP00000003084.6:p.Asn597Tyr
ENST00000647978.1:c.*1503A>T	ENSP00000497658.1:n.*1503A>T
ENST00000648260.1:c.1402-10870A>T	ENSP00000497957.1:n.1402-10870A>T
ENST00000649406.1:c.1606A>T	ENSP00000497965.1:p.Asn536Tyr
ENST00000649781.1:c.1606A>T	ENSP00000497203.1:p.Asn536Tyr
ENST00000003084.10:c.1789A>T	ENSP00000003084.6:p.Asn597Tyr
ENST00000426809.5:c.1699A>T	ENSP00000389119.1:p.Asn567Tyr
NM_000492.3:c.1789A>T , LRG_663t1:c.1789A>T	NP_000483.3:p.Asn597Tyr
XM_011515751.1:c.1879A>T	XP_011514053.1:p.Asn627Tyr
XM_011515752.1:c.1879A>T	XP_011514054.1:p.Asn627Tyr
XM_011515753.1:c.1546A>T	XP_011514055.1:p.Asn516Tyr
XM_011515754.1:c.1546A>T	XP_011514056.1:p.Asn516Tyr
NM_000492.4:c.1789A>T MANE Select	NP_000483.3:p.Asn597Tyr