Canonical Allele Identifier: CA368997537

Gene: CFTR

Linked Data

• gnomAD v4: 7-117627751-C-A
• MyVariant Identifiers: chr7:g.117267805C>A (hg19) ; chr7:g.117627751C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627751C>A , CM000669.2:g.117627751C>A	GRCh38
NC_000007.13:g.117267805C>A , CM000669.1:g.117267805C>A	GRCh37
NC_000007.12:g.117055041C>A	NCBI36
NG_016465.4:g.166968C>A , LRG_663:g.166968C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3517+181C>A	ENSP00000497673.2:n.3517+181C>A
ENST00000647978.2:c.*3412C>A	ENSP00000497658.1:n.*3412C>A
ENST00000649781.2:c.3515C>A	ENSP00000497203.1:p.Ser1172Ter
ENST00000685018.2:c.3698C>A	ENSP00000510194.2:p.Ser1233Ter
ENST00000687278.2:c.*351C>A	ENSP00000509593.2:n.*351C>A
ENST00000699585.1:c.3517+181C>A	ENSP00000514456.1:n.3517+181C>A
ENST00000699598.1:c.3698C>A	ENSP00000514467.1:p.Ser1233Ter
ENST00000699599.1:c.3698C>A	ENSP00000514468.1:p.Ser1233Ter
ENST00000699600.1:c.*359C>A	ENSP00000514469.1:n.*359C>A
ENST00000699601.1:c.*2073C>A	ENSP00000514470.1:n.*2073C>A
ENST00000699602.1:c.3692C>A	ENSP00000514471.1:p.Ser1231Ter
ENST00000699604.1:c.*3522C>A	ENSP00000514472.1:n.*3522C>A
ENST00000699605.1:c.3272C>A	ENSP00000514473.1:p.Ser1091Ter
ENST00000685018.1:c.446C>A	ENSP00000510194.1:p.Ser149Ter
ENST00000687278.1:c.1485C>A	ENSP00000509593.1:n.1485C>A
ENST00000689011.1:c.280C>A
ENST00000003084.11:c.3698C>A MANE Select	ENSP00000003084.6:p.Ser1233Ter
ENST00000647720.1:c.1167+181C>A
ENST00000648260.1:c.2480C>A	ENSP00000497957.1:p.Ser827Ter
ENST00000649406.1:c.3515C>A	ENSP00000497965.1:p.Ser1172Ter
ENST00000649781.1:c.3515C>A	ENSP00000497203.1:p.Ser1172Ter
ENST00000003084.10:c.3698C>A	ENSP00000003084.6:p.Ser1233Ter
ENST00000426809.5:c.3608C>A	ENSP00000389119.1:p.Ser1203Ter
ENST00000468795.1:c.523C>A
NM_000492.3:c.3698C>A , LRG_663t1:c.3698C>A	NP_000483.3:p.Ser1233Ter
XM_011515751.1:c.3788C>A	XP_011514053.1:p.Ser1263Ter
XM_011515752.1:c.3788C>A	XP_011514054.1:p.Ser1263Ter
XM_011515753.1:c.3455C>A	XP_011514055.1:p.Ser1152Ter
XM_011515754.1:c.3455C>A	XP_011514056.1:p.Ser1152Ter
NM_000492.4:c.3698C>A MANE Select	NP_000483.3:p.Ser1233Ter