Canonical Allele Identifier: CA368997215

Gene: CFTR

Linked Data

• gnomAD v4: 7-117627673-G-C
• MyVariant Identifiers: chr7:g.117267727G>C (hg19) ; chr7:g.117627673G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627673G>C , CM000669.2:g.117627673G>C	GRCh38
NC_000007.13:g.117267727G>C , CM000669.1:g.117267727G>C	GRCh37
NC_000007.12:g.117054963G>C	NCBI36
NG_016465.4:g.166890G>C , LRG_663:g.166890G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3517+103G>C	ENSP00000497673.2:n.3517+103G>C
ENST00000647978.2:c.*3334G>C	ENSP00000497658.1:n.*3334G>C
ENST00000649781.2:c.3437G>C	ENSP00000497203.1:p.Gly1146Ala
ENST00000685018.2:c.3620G>C	ENSP00000510194.2:p.Gly1207Ala
ENST00000687278.2:c.*273G>C	ENSP00000509593.2:n.*273G>C
ENST00000699585.1:c.3517+103G>C	ENSP00000514456.1:n.3517+103G>C
ENST00000699598.1:c.3620G>C	ENSP00000514467.1:p.Gly1207Ala
ENST00000699599.1:c.3620G>C	ENSP00000514468.1:p.Gly1207Ala
ENST00000699600.1:c.*281G>C	ENSP00000514469.1:n.*281G>C
ENST00000699601.1:c.*1995G>C	ENSP00000514470.1:n.*1995G>C
ENST00000699602.1:c.3614G>C	ENSP00000514471.1:p.Gly1205Ala
ENST00000699604.1:c.*3444G>C	ENSP00000514472.1:n.*3444G>C
ENST00000699605.1:c.3194G>C	ENSP00000514473.1:p.Gly1065Ala
ENST00000685018.1:c.368G>C	ENSP00000510194.1:p.Gly123Ala
ENST00000687278.1:c.1407G>C	ENSP00000509593.1:n.1407G>C
ENST00000689011.1:c.202G>C
ENST00000003084.11:c.3620G>C MANE Select	ENSP00000003084.6:p.Gly1207Ala
ENST00000647720.1:c.1167+103G>C
ENST00000648260.1:c.2402G>C	ENSP00000497957.1:p.Gly801Ala
ENST00000649406.1:c.3437G>C	ENSP00000497965.1:p.Gly1146Ala
ENST00000649781.1:c.3437G>C	ENSP00000497203.1:p.Gly1146Ala
ENST00000003084.10:c.3620G>C	ENSP00000003084.6:p.Gly1207Ala
ENST00000426809.5:c.3530G>C	ENSP00000389119.1:p.Gly1177Ala
ENST00000468795.1:c.445G>C
NM_000492.3:c.3620G>C , LRG_663t1:c.3620G>C	NP_000483.3:p.Gly1207Ala
XM_011515751.1:c.3710G>C	XP_011514053.1:p.Gly1237Ala
XM_011515752.1:c.3710G>C	XP_011514054.1:p.Gly1237Ala
XM_011515753.1:c.3377G>C	XP_011514055.1:p.Gly1126Ala
XM_011515754.1:c.3377G>C	XP_011514056.1:p.Gly1126Ala
NM_000492.4:c.3620G>C MANE Select	NP_000483.3:p.Gly1207Ala