Canonical Allele Identifier: CA457228147

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1647575
• ClinVar RCV Id: RCV002139172
• dbSNP Id: rs771812900
• gnomAD v4: 7-117642503-G-C
• MyVariant Identifiers: chr7:g.117282557G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642503G>C , CM000669.2:g.117642503G>C	GRCh38
NC_000007.13:g.117282557G>C , CM000669.1:g.117282557G>C	GRCh37
NC_000007.12:g.117069793G>C	NCBI36
NG_016465.4:g.181720G>C , LRG_663:g.181720G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3583G>C	ENSP00000497673.2:p.Glu1195Gln
ENST00000647978.2:c.*3497G>C	ENSP00000497658.1:n.*3497G>C
ENST00000649781.2:c.3600G>C	ENSP00000497203.1:p.Leu1200=
ENST00000685018.2:c.3783G>C	ENSP00000510194.2:p.Leu1261=
ENST00000687278.2:c.*436G>C	ENSP00000509593.2:n.*436G>C
ENST00000699585.1:c.3583G>C	ENSP00000514456.1:p.Glu1195Gln
ENST00000699598.1:c.3783G>C	ENSP00000514467.1:p.Leu1261=
ENST00000699599.1:c.3783G>C	ENSP00000514468.1:p.Leu1261=
ENST00000699600.1:c.*444G>C	ENSP00000514469.1:n.*444G>C
ENST00000699601.1:c.*2158G>C	ENSP00000514470.1:n.*2158G>C
ENST00000699602.1:c.3777G>C	ENSP00000514471.1:p.Leu1259=
ENST00000699604.1:c.*3607G>C	ENSP00000514472.1:n.*3607G>C
ENST00000699605.1:c.3357G>C	ENSP00000514473.1:p.Leu1119=
ENST00000685018.1:c.531G>C	ENSP00000510194.1:p.Leu177=
ENST00000687278.1:c.1570G>C	ENSP00000509593.1:n.1570G>C
ENST00000689011.1:c.365G>C
ENST00000003084.11:c.3783G>C MANE Select	ENSP00000003084.6:p.Leu1261=
ENST00000647720.1:c.1233G>C
ENST00000649781.1:c.3600G>C	ENSP00000497203.1:p.Leu1200=
ENST00000003084.10:c.3783G>C	ENSP00000003084.6:p.Leu1261=
ENST00000426809.5:c.3693G>C	ENSP00000389119.1:p.Leu1231=
NM_000492.3:c.3783G>C , LRG_663t1:c.3783G>C	NP_000483.3:p.Leu1261=
XM_011515751.1:c.3873G>C	XP_011514053.1:p.Leu1291=
XM_011515752.1:c.3873G>C	XP_011514054.1:p.Leu1291=
XM_011515753.1:c.3540G>C	XP_011514055.1:p.Leu1180=
XM_011515754.1:c.3540G>C	XP_011514056.1:p.Leu1180=
NM_000492.4:c.3783G>C MANE Select	NP_000483.3:p.Leu1261=