Canonical Allele Identifier: CA368977225

Gene: CFTR

Linked Data

• ClinVar Variation Id: 555450
• ClinVar RCV Id: RCV000671274 ; RCV001002407 ; RCV001509315
• dbSNP Id: rs1554380515
• MyVariant Identifiers: chr7:g.117175464A>G (hg19) ; chr7:g.117535410A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117535410A>G , CM000669.2:g.117535410A>G	GRCh38
NC_000007.13:g.117175464A>G , CM000669.1:g.117175464A>G	GRCh37
NC_000007.12:g.116962700A>G	NCBI36
NG_016465.4:g.74627A>G , LRG_663:g.74627A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.742A>G	ENSP00000497673.2:p.Arg248Gly
ENST00000647978.2:c.*639A>G	ENSP00000497658.1:n.*639A>G
ENST00000649781.2:c.742A>G	ENSP00000497203.1:p.Arg248Gly
ENST00000685018.2:c.742A>G	ENSP00000510194.2:p.Arg248Gly
ENST00000687278.2:c.742A>G	ENSP00000509593.2:p.Arg248Gly
ENST00000699585.1:c.742A>G	ENSP00000514456.1:p.Arg248Gly
ENST00000699596.1:c.742A>G	ENSP00000514465.1:p.Arg248Gly
ENST00000699597.1:c.742A>G	ENSP00000514466.1:p.Arg248Gly
ENST00000699598.1:c.742A>G	ENSP00000514467.1:p.Arg248Gly
ENST00000699599.1:c.742A>G	ENSP00000514468.1:p.Arg248Gly
ENST00000699600.1:c.742A>G	ENSP00000514469.1:p.Arg248Gly
ENST00000699601.1:c.742A>G	ENSP00000514470.1:p.Arg248Gly
ENST00000699602.1:c.742A>G	ENSP00000514471.1:p.Arg248Gly
ENST00000699604.1:c.*566A>G	ENSP00000514472.1:n.*566A>G
ENST00000699605.1:c.499A>G	ENSP00000514473.1:p.Arg167Gly
ENST00000003084.11:c.742A>G MANE Select	ENSP00000003084.6:p.Arg248Gly
ENST00000647978.1:c.*639A>G	ENSP00000497658.1:n.*639A>G
ENST00000648260.1:c.742A>G	ENSP00000497957.1:p.Arg248Gly
ENST00000649406.1:c.742A>G	ENSP00000497965.1:p.Arg248Gly
ENST00000649781.1:c.742A>G	ENSP00000497203.1:p.Arg248Gly
ENST00000673785.1:c.499A>G	ENSP00000501235.1:p.Arg167Gly
ENST00000003084.10:c.742A>G	ENSP00000003084.6:p.Arg248Gly
ENST00000426809.5:c.652A>G	ENSP00000389119.1:p.Arg218Gly
NM_000492.3:c.742A>G , LRG_663t1:c.742A>G	NP_000483.3:p.Arg248Gly
XM_011515751.1:c.832A>G	XP_011514053.1:p.Arg278Gly
XM_011515752.1:c.832A>G	XP_011514054.1:p.Arg278Gly
XM_011515753.1:c.499A>G	XP_011514055.1:p.Arg167Gly
XM_011515754.1:c.499A>G	XP_011514056.1:p.Arg167Gly
NM_000492.4:c.742A>G MANE Select	NP_000483.3:p.Arg248Gly