Canonical Allele Identifier: CA327245

Gene: CFTR

Linked Data

• dbSNP Id: rs397508590
• MyVariant Identifiers: chr7:g.117267736T>A (hg19) ; chr7:g.117627682T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627682T>A , CM000669.2:g.117627682T>A	GRCh38
NC_000007.13:g.117267736T>A , CM000669.1:g.117267736T>A	GRCh37
NC_000007.12:g.117054972T>A	NCBI36
NG_016465.4:g.166899T>A , LRG_663:g.166899T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3517+112T>A	ENSP00000497673.2:n.3517+112T>A
ENST00000647978.2:c.*3343T>A	ENSP00000497658.1:n.*3343T>A
ENST00000649781.2:c.3446T>A	ENSP00000497203.1:p.Met1149Lys
ENST00000685018.2:c.3629T>A	ENSP00000510194.2:p.Met1210Lys
ENST00000687278.2:c.*282T>A	ENSP00000509593.2:n.*282T>A
ENST00000699585.1:c.3517+112T>A	ENSP00000514456.1:n.3517+112T>A
ENST00000699598.1:c.3629T>A	ENSP00000514467.1:p.Met1210Lys
ENST00000699599.1:c.3629T>A	ENSP00000514468.1:p.Met1210Lys
ENST00000699600.1:c.*290T>A	ENSP00000514469.1:n.*290T>A
ENST00000699601.1:c.*2004T>A	ENSP00000514470.1:n.*2004T>A
ENST00000699602.1:c.3623T>A	ENSP00000514471.1:p.Met1208Lys
ENST00000699604.1:c.*3453T>A	ENSP00000514472.1:n.*3453T>A
ENST00000699605.1:c.3203T>A	ENSP00000514473.1:p.Met1068Lys
ENST00000685018.1:c.377T>A	ENSP00000510194.1:p.Met126Lys
ENST00000687278.1:c.1416T>A	ENSP00000509593.1:n.1416T>A
ENST00000689011.1:c.211T>A
ENST00000003084.11:c.3629T>A MANE Select	ENSP00000003084.6:p.Met1210Lys
ENST00000647720.1:c.1167+112T>A
ENST00000648260.1:c.2411T>A	ENSP00000497957.1:p.Met804Lys
ENST00000649406.1:c.3446T>A	ENSP00000497965.1:p.Met1149Lys
ENST00000649781.1:c.3446T>A	ENSP00000497203.1:p.Met1149Lys
ENST00000003084.10:c.3629T>A	ENSP00000003084.6:p.Met1210Lys
ENST00000426809.5:c.3539T>A	ENSP00000389119.1:p.Met1180Lys
ENST00000468795.1:c.454T>A
NM_000492.3:c.3629T>A , LRG_663t1:c.3629T>A	NP_000483.3:p.Met1210Lys
XM_011515751.1:c.3719T>A	XP_011514053.1:p.Met1240Lys
XM_011515752.1:c.3719T>A	XP_011514054.1:p.Met1240Lys
XM_011515753.1:c.3386T>A	XP_011514055.1:p.Met1129Lys
XM_011515754.1:c.3386T>A	XP_011514056.1:p.Met1129Lys
NM_000492.4:c.3629T>A MANE Select	NP_000483.3:p.Met1210Lys