Canonical Allele Identifier: CA368987171

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1163874
• ClinVar RCV Id: RCV001509326 ; RCV004037908
• dbSNP Id: rs1792261737
• gnomAD v4: 7-117603711-A-T
• MyVariant Identifiers: chr7:g.117243765A>T (hg19) ; chr7:g.117603711A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603711A>T , CM000669.2:g.117603711A>T	GRCh38
NC_000007.13:g.117243765A>T , CM000669.1:g.117243765A>T	GRCh37
NC_000007.12:g.117031001A>T	NCBI36
NG_016465.4:g.142928A>T , LRG_663:g.142928A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2837A>T	ENSP00000497673.2:p.Lys946Ile
ENST00000647978.2:c.*2551A>T	ENSP00000497658.1:n.*2551A>T
ENST00000649781.2:c.2654A>T	ENSP00000497203.1:p.Lys885Ile
ENST00000685018.2:c.2837A>T	ENSP00000510194.2:p.Lys946Ile
ENST00000687278.2:c.2837A>T	ENSP00000509593.2:p.Lys946Ile
ENST00000699585.1:c.2837A>T	ENSP00000514456.1:p.Lys946Ile
ENST00000699598.1:c.2837A>T	ENSP00000514467.1:p.Lys946Ile
ENST00000699599.1:c.2837A>T	ENSP00000514468.1:p.Lys946Ile
ENST00000699600.1:c.2837A>T	ENSP00000514469.1:p.Lys946Ile
ENST00000699601.1:c.*1137A>T	ENSP00000514470.1:n.*1137A>T
ENST00000699602.1:c.2837A>T	ENSP00000514471.1:p.Lys946Ile
ENST00000699604.1:c.*2661A>T	ENSP00000514472.1:n.*2661A>T
ENST00000699605.1:c.2411A>T	ENSP00000514473.1:p.Lys804Ile
ENST00000687278.1:c.428A>T	ENSP00000509593.1:p.Lys143Ile
ENST00000003084.11:c.2837A>T MANE Select	ENSP00000003084.6:p.Lys946Ile
ENST00000647720.1:c.487A>T
ENST00000648260.1:c.1619A>T	ENSP00000497957.1:p.Lys540Ile
ENST00000649406.1:c.2654A>T	ENSP00000497965.1:p.Lys885Ile
ENST00000649781.1:c.2654A>T	ENSP00000497203.1:p.Lys885Ile
ENST00000003084.10:c.2837A>T	ENSP00000003084.6:p.Lys946Ile
ENST00000426809.5:c.2747A>T	ENSP00000389119.1:p.Lys916Ile
NM_000492.3:c.2837A>T , LRG_663t1:c.2837A>T	NP_000483.3:p.Lys946Ile
XM_011515751.1:c.2927A>T	XP_011514053.1:p.Lys976Ile
XM_011515752.1:c.2927A>T	XP_011514054.1:p.Lys976Ile
XM_011515753.1:c.2594A>T	XP_011514055.1:p.Lys865Ile
XM_011515754.1:c.2594A>T	XP_011514056.1:p.Lys865Ile
NM_000492.4:c.2837A>T MANE Select	NP_000483.3:p.Lys946Ile