Canonical Allele Identifier: CA4451500

Gene: CFTR

Linked Data

• dbSNP Id: rs765869179
• ExAC: 7:117267679 T / C
• gnomAD v2: 7-117267679-T-C
• gnomAD v4: 7-117627625-T-C
• MyVariant Identifiers: chr7:g.117267679T>C (hg19) ; chr7:g.117627625T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3517+55T>C	ENSP00000497673.2:n.3517+55T>C
ENST00000647978.2:c.*3286T>C	ENSP00000497658.1:n.*3286T>C
ENST00000649781.2:c.3389T>C	ENSP00000497203.1:p.Met1130Thr
ENST00000685018.2:c.3572T>C	ENSP00000510194.2:p.Met1191Thr
ENST00000687278.2:c.*225T>C	ENSP00000509593.2:n.*225T>C
ENST00000699585.1:c.3517+55T>C	ENSP00000514456.1:n.3517+55T>C
ENST00000699598.1:c.3572T>C	ENSP00000514467.1:p.Met1191Thr
ENST00000699599.1:c.3572T>C	ENSP00000514468.1:p.Met1191Thr
ENST00000699600.1:c.*233T>C	ENSP00000514469.1:n.*233T>C
ENST00000699601.1:c.*1947T>C	ENSP00000514470.1:n.*1947T>C
ENST00000699602.1:c.3566T>C	ENSP00000514471.1:p.Met1189Thr
ENST00000699604.1:c.*3396T>C	ENSP00000514472.1:n.*3396T>C
ENST00000699605.1:c.3146T>C	ENSP00000514473.1:p.Met1049Thr
ENST00000685018.1:c.320T>C	ENSP00000510194.1:p.Met107Thr
ENST00000687278.1:c.1359T>C	ENSP00000509593.1:n.1359T>C
ENST00000689011.1:c.154T>C
ENST00000003084.11:c.3572T>C MANE Select	ENSP00000003084.6:p.Met1191Thr
ENST00000647720.1:c.1167+55T>C
ENST00000648260.1:c.2354T>C	ENSP00000497957.1:p.Met785Thr
ENST00000649406.1:c.3389T>C	ENSP00000497965.1:p.Met1130Thr
ENST00000649781.1:c.3389T>C	ENSP00000497203.1:p.Met1130Thr
ENST00000003084.10:c.3572T>C	ENSP00000003084.6:p.Met1191Thr
ENST00000426809.5:c.3482T>C	ENSP00000389119.1:p.Met1161Thr
ENST00000468795.1:c.397T>C
NM_000492.3:c.3572T>C , LRG_663t1:c.3572T>C	NP_000483.3:p.Met1191Thr
XM_011515751.1:c.3662T>C	XP_011514053.1:p.Met1221Thr
XM_011515752.1:c.3662T>C	XP_011514054.1:p.Met1221Thr
XM_011515753.1:c.3329T>C	XP_011514055.1:p.Met1110Thr
XM_011515754.1:c.3329T>C	XP_011514056.1:p.Met1110Thr
NM_000492.4:c.3572T>C MANE Select	NP_000483.3:p.Met1191Thr