Canonical Allele Identifier: CA457228467

Gene: CFTR

Linked Data

• dbSNP Id: rs747748817
• gnomAD v2: 7-117282629-C-T
• gnomAD v4: 7-117642575-C-T
• MyVariant Identifiers: chr7:g.117282629C>T (hg19) ; chr7:g.117642575C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642575C>T , CM000669.2:g.117642575C>T	GRCh38
NC_000007.13:g.117282629C>T , CM000669.1:g.117282629C>T	GRCh37
NC_000007.12:g.117069865C>T	NCBI36
NG_016465.4:g.181792C>T , LRG_663:g.181792C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*64C>T	ENSP00000497673.2:n.*64C>T
ENST00000647978.2:c.*3569C>T	ENSP00000497658.1:n.*3569C>T
ENST00000649781.2:c.3672C>T	ENSP00000497203.1:p.Ala1224=
ENST00000685018.2:c.3855C>T	ENSP00000510194.2:p.Ala1285=
ENST00000687278.2:c.*508C>T	ENSP00000509593.2:n.*508C>T
ENST00000699585.1:c.*64C>T	ENSP00000514456.1:n.*64C>T
ENST00000699598.1:c.3855C>T	ENSP00000514467.1:p.Ala1285=
ENST00000699599.1:c.3855C>T	ENSP00000514468.1:p.Ala1285=
ENST00000699600.1:c.*516C>T	ENSP00000514469.1:n.*516C>T
ENST00000699601.1:c.*2230C>T	ENSP00000514470.1:n.*2230C>T
ENST00000699602.1:c.3849C>T	ENSP00000514471.1:p.Ala1283=
ENST00000699604.1:c.*3679C>T	ENSP00000514472.1:n.*3679C>T
ENST00000699605.1:c.3429C>T	ENSP00000514473.1:p.Ala1143=
ENST00000685018.1:c.603C>T	ENSP00000510194.1:p.Ala201=
ENST00000687278.1:c.1642C>T	ENSP00000509593.1:n.1642C>T
ENST00000689011.1:c.437C>T
ENST00000003084.11:c.3855C>T MANE Select	ENSP00000003084.6:p.Ala1285=
ENST00000647720.1:c.1305C>T
ENST00000649781.1:c.3672C>T	ENSP00000497203.1:p.Ala1224=
ENST00000003084.10:c.3855C>T	ENSP00000003084.6:p.Ala1285=
ENST00000426809.5:c.3765C>T	ENSP00000389119.1:p.Ala1255=
NM_000492.3:c.3855C>T , LRG_663t1:c.3855C>T	NP_000483.3:p.Ala1285=
XM_011515751.1:c.3945C>T	XP_011514053.1:p.Ala1315=
XM_011515752.1:c.3945C>T	XP_011514054.1:p.Ala1315=
XM_011515753.1:c.3612C>T	XP_011514055.1:p.Ala1204=
XM_011515754.1:c.3612C>T	XP_011514056.1:p.Ala1204=
NM_000492.4:c.3855C>T MANE Select	NP_000483.3:p.Ala1285=