Canonical Allele Identifier: CA368995938

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117267582T>G (hg19) ; chr7:g.117627528T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627528T>G , CM000669.2:g.117627528T>G	GRCh38
NC_000007.13:g.117267582T>G , CM000669.1:g.117267582T>G	GRCh37
NC_000007.12:g.117054818T>G	NCBI36
NG_016465.4:g.166745T>G , LRG_663:g.166745T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3475T>G	ENSP00000497673.2:p.Ser1159Ala
ENST00000647978.2:c.*3189T>G	ENSP00000497658.1:n.*3189T>G
ENST00000649781.2:c.3292T>G	ENSP00000497203.1:p.Ser1098Ala
ENST00000685018.2:c.3475T>G	ENSP00000510194.2:p.Ser1159Ala
ENST00000687278.2:c.*128T>G	ENSP00000509593.2:n.*128T>G
ENST00000699585.1:c.3475T>G	ENSP00000514456.1:p.Ser1159Ala
ENST00000699598.1:c.3475T>G	ENSP00000514467.1:p.Ser1159Ala
ENST00000699599.1:c.3475T>G	ENSP00000514468.1:p.Ser1159Ala
ENST00000699600.1:c.*136T>G	ENSP00000514469.1:n.*136T>G
ENST00000699601.1:c.*1850T>G	ENSP00000514470.1:n.*1850T>G
ENST00000699602.1:c.3469T>G	ENSP00000514471.1:p.Ser1157Ala
ENST00000699604.1:c.*3299T>G	ENSP00000514472.1:n.*3299T>G
ENST00000699605.1:c.3049T>G	ENSP00000514473.1:p.Ser1017Ala
ENST00000685018.1:c.223T>G	ENSP00000510194.1:p.Ser75Ala
ENST00000687278.1:c.1262T>G	ENSP00000509593.1:n.1262T>G
ENST00000689011.1:c.57T>G
ENST00000003084.11:c.3475T>G MANE Select	ENSP00000003084.6:p.Ser1159Ala
ENST00000647720.1:c.1125T>G
ENST00000648260.1:c.2257T>G	ENSP00000497957.1:p.Ser753Ala
ENST00000649406.1:c.3292T>G	ENSP00000497965.1:p.Ser1098Ala
ENST00000649781.1:c.3292T>G	ENSP00000497203.1:p.Ser1098Ala
ENST00000003084.10:c.3475T>G	ENSP00000003084.6:p.Ser1159Ala
ENST00000426809.5:c.3385T>G	ENSP00000389119.1:p.Ser1129Ala
ENST00000468795.1:c.300T>G
NM_000492.3:c.3475T>G , LRG_663t1:c.3475T>G	NP_000483.3:p.Ser1159Ala
XM_011515751.1:c.3565T>G	XP_011514053.1:p.Ser1189Ala
XM_011515752.1:c.3565T>G	XP_011514054.1:p.Ser1189Ala
XM_011515753.1:c.3232T>G	XP_011514055.1:p.Ser1078Ala
XM_011515754.1:c.3232T>G	XP_011514056.1:p.Ser1078Ala
NM_000492.4:c.3475T>G MANE Select	NP_000483.3:p.Ser1159Ala