Canonical Allele Identifier: CA368996451

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117267679T>A (hg19) ; chr7:g.117627625T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627625T>A , CM000669.2:g.117627625T>A	GRCh38
NC_000007.13:g.117267679T>A , CM000669.1:g.117267679T>A	GRCh37
NC_000007.12:g.117054915T>A	NCBI36
NG_016465.4:g.166842T>A , LRG_663:g.166842T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3517+55T>A	ENSP00000497673.2:n.3517+55T>A
ENST00000647978.2:c.*3286T>A	ENSP00000497658.1:n.*3286T>A
ENST00000649781.2:c.3389T>A	ENSP00000497203.1:p.Met1130Lys
ENST00000685018.2:c.3572T>A	ENSP00000510194.2:p.Met1191Lys
ENST00000687278.2:c.*225T>A	ENSP00000509593.2:n.*225T>A
ENST00000699585.1:c.3517+55T>A	ENSP00000514456.1:n.3517+55T>A
ENST00000699598.1:c.3572T>A	ENSP00000514467.1:p.Met1191Lys
ENST00000699599.1:c.3572T>A	ENSP00000514468.1:p.Met1191Lys
ENST00000699600.1:c.*233T>A	ENSP00000514469.1:n.*233T>A
ENST00000699601.1:c.*1947T>A	ENSP00000514470.1:n.*1947T>A
ENST00000699602.1:c.3566T>A	ENSP00000514471.1:p.Met1189Lys
ENST00000699604.1:c.*3396T>A	ENSP00000514472.1:n.*3396T>A
ENST00000699605.1:c.3146T>A	ENSP00000514473.1:p.Met1049Lys
ENST00000685018.1:c.320T>A	ENSP00000510194.1:p.Met107Lys
ENST00000687278.1:c.1359T>A	ENSP00000509593.1:n.1359T>A
ENST00000689011.1:c.154T>A
ENST00000003084.11:c.3572T>A MANE Select	ENSP00000003084.6:p.Met1191Lys
ENST00000647720.1:c.1167+55T>A
ENST00000648260.1:c.2354T>A	ENSP00000497957.1:p.Met785Lys
ENST00000649406.1:c.3389T>A	ENSP00000497965.1:p.Met1130Lys
ENST00000649781.1:c.3389T>A	ENSP00000497203.1:p.Met1130Lys
ENST00000003084.10:c.3572T>A	ENSP00000003084.6:p.Met1191Lys
ENST00000426809.5:c.3482T>A	ENSP00000389119.1:p.Met1161Lys
ENST00000468795.1:c.397T>A
NM_000492.3:c.3572T>A , LRG_663t1:c.3572T>A	NP_000483.3:p.Met1191Lys
XM_011515751.1:c.3662T>A	XP_011514053.1:p.Met1221Lys
XM_011515752.1:c.3662T>A	XP_011514054.1:p.Met1221Lys
XM_011515753.1:c.3329T>A	XP_011514055.1:p.Met1110Lys
XM_011515754.1:c.3329T>A	XP_011514056.1:p.Met1110Lys
NM_000492.4:c.3572T>A MANE Select	NP_000483.3:p.Met1191Lys