Canonical Allele Identifier: CA368976506

Gene: CFTR

Linked Data

• ClinVar Variation Id: 917999
• ClinVar RCV Id: RCV001175244
• dbSNP Id: rs1798913255
• MyVariant Identifiers: chr7:g.117174391T>G (hg19) ; chr7:g.117534337T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117534337T>G , CM000669.2:g.117534337T>G	GRCh38
NC_000007.13:g.117174391T>G , CM000669.1:g.117174391T>G	GRCh37
NC_000007.12:g.116961627T>G	NCBI36
NG_016465.4:g.73554T>G , LRG_663:g.73554T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.551T>G	ENSP00000497673.2:p.Leu184Arg
ENST00000647978.2:c.*448T>G	ENSP00000497658.1:n.*448T>G
ENST00000649781.2:c.551T>G	ENSP00000497203.1:p.Leu184Arg
ENST00000685018.2:c.551T>G	ENSP00000510194.2:p.Leu184Arg
ENST00000687278.2:c.551T>G	ENSP00000509593.2:p.Leu184Arg
ENST00000699585.1:c.551T>G	ENSP00000514456.1:p.Leu184Arg
ENST00000699596.1:c.551T>G	ENSP00000514465.1:p.Leu184Arg
ENST00000699597.1:c.551T>G	ENSP00000514466.1:p.Leu184Arg
ENST00000699598.1:c.551T>G	ENSP00000514467.1:p.Leu184Arg
ENST00000699599.1:c.551T>G	ENSP00000514468.1:p.Leu184Arg
ENST00000699600.1:c.551T>G	ENSP00000514469.1:p.Leu184Arg
ENST00000699601.1:c.551T>G	ENSP00000514470.1:p.Leu184Arg
ENST00000699602.1:c.551T>G	ENSP00000514471.1:p.Leu184Arg
ENST00000699604.1:c.*375T>G	ENSP00000514472.1:n.*375T>G
ENST00000699605.1:c.308T>G	ENSP00000514473.1:p.Leu103Arg
ENST00000003084.11:c.551T>G MANE Select	ENSP00000003084.6:p.Leu184Arg
ENST00000647978.1:c.*448T>G	ENSP00000497658.1:n.*448T>G
ENST00000648260.1:c.551T>G	ENSP00000497957.1:p.Leu184Arg
ENST00000649406.1:c.551T>G	ENSP00000497965.1:p.Leu184Arg
ENST00000649781.1:c.551T>G	ENSP00000497203.1:p.Leu184Arg
ENST00000673785.1:c.308T>G	ENSP00000501235.1:p.Leu103Arg
ENST00000003084.10:c.551T>G	ENSP00000003084.6:p.Leu184Arg
ENST00000426809.5:c.490-911T>G	ENSP00000389119.1:n.490-911T>G
NM_000492.3:c.551T>G , LRG_663t1:c.551T>G	NP_000483.3:p.Leu184Arg
XM_011515751.1:c.641T>G	XP_011514053.1:p.Leu214Arg
XM_011515752.1:c.641T>G	XP_011514054.1:p.Leu214Arg
XM_011515753.1:c.308T>G	XP_011514055.1:p.Leu103Arg
XM_011515754.1:c.308T>G	XP_011514056.1:p.Leu103Arg
NM_000492.4:c.551T>G MANE Select	NP_000483.3:p.Leu184Arg