Canonical Allele Identifier: CA368978177

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2680693
• ClinVar RCV Id: RCV003475672
• MyVariant Identifiers: chr7:g.117292926A>T (hg19) ; chr7:g.117652872A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652872A>T , CM000669.2:g.117652872A>T	GRCh38
NC_000007.13:g.117292926A>T , CM000669.1:g.117292926A>T	GRCh37
NC_000007.12:g.117080162A>T	NCBI36
NG_016465.4:g.192089A>T , LRG_663:g.192089A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*113A>T	ENSP00000497673.2:n.*113A>T
ENST00000647978.2:c.*3618A>T	ENSP00000497658.1:n.*3618A>T
ENST00000649781.2:c.3721A>T	ENSP00000497203.1:p.Lys1241Ter
ENST00000685018.2:c.*117A>T	ENSP00000510194.2:n.*117A>T
ENST00000687278.2:c.*557A>T	ENSP00000509593.2:n.*557A>T
ENST00000699585.1:c.*113A>T	ENSP00000514456.1:n.*113A>T
ENST00000699598.1:c.3904A>T	ENSP00000514467.1:p.Lys1302Ter
ENST00000699599.1:c.*117A>T	ENSP00000514468.1:n.*117A>T
ENST00000699600.1:c.*565A>T	ENSP00000514469.1:n.*565A>T
ENST00000699601.1:c.*2279A>T	ENSP00000514470.1:n.*2279A>T
ENST00000699602.1:c.3898A>T	ENSP00000514471.1:p.Lys1300Ter
ENST00000699604.1:c.*3728A>T	ENSP00000514472.1:n.*3728A>T
ENST00000699605.1:c.3478A>T	ENSP00000514473.1:p.Lys1160Ter
ENST00000699606.1:n.2072A>T
ENST00000685018.1:c.768A>T	ENSP00000510194.1:n.768A>T
ENST00000687278.1:c.1691A>T	ENSP00000509593.1:n.1691A>T
ENST00000689011.1:c.486A>T
ENST00000003084.11:c.3904A>T MANE Select	ENSP00000003084.6:p.Lys1302Ter
ENST00000647720.1:c.1354A>T
ENST00000649781.1:c.3721A>T	ENSP00000497203.1:p.Lys1241Ter
ENST00000003084.10:c.3904A>T	ENSP00000003084.6:p.Lys1302Ter
ENST00000426809.5:c.3814A>T	ENSP00000389119.1:p.Lys1272Ter
ENST00000600166.1:c.30A>T
NM_000492.3:c.3904A>T , LRG_663t1:c.3904A>T	NP_000483.3:p.Lys1302Ter
XM_011515751.1:c.3994A>T	XP_011514053.1:p.Lys1332Ter
XM_011515752.1:c.3994A>T	XP_011514054.1:p.Lys1332Ter
XM_011515753.1:c.3661A>T	XP_011514055.1:p.Lys1221Ter
XM_011515754.1:c.3661A>T	XP_011514056.1:p.Lys1221Ter
NM_000492.4:c.3904A>T MANE Select	NP_000483.3:p.Lys1302Ter