Canonical Allele Identifier: CA368997051

Gene: CFTR

Linked Data

• dbSNP Id: rs397508584
• MyVariant Identifiers: chr7:g.117267691A>G (hg19) ; chr7:g.117627637A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627637A>G , CM000669.2:g.117627637A>G	GRCh38
NC_000007.13:g.117267691A>G , CM000669.1:g.117267691A>G	GRCh37
NC_000007.12:g.117054927A>G	NCBI36
NG_016465.4:g.166854A>G , LRG_663:g.166854A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3517+67A>G	ENSP00000497673.2:n.3517+67A>G
ENST00000647978.2:c.*3298A>G	ENSP00000497658.1:n.*3298A>G
ENST00000649781.2:c.3401A>G	ENSP00000497203.1:p.Asn1134Ser
ENST00000685018.2:c.3584A>G	ENSP00000510194.2:p.Asn1195Ser
ENST00000687278.2:c.*237A>G	ENSP00000509593.2:n.*237A>G
ENST00000699585.1:c.3517+67A>G	ENSP00000514456.1:n.3517+67A>G
ENST00000699598.1:c.3584A>G	ENSP00000514467.1:p.Asn1195Ser
ENST00000699599.1:c.3584A>G	ENSP00000514468.1:p.Asn1195Ser
ENST00000699600.1:c.*245A>G	ENSP00000514469.1:n.*245A>G
ENST00000699601.1:c.*1959A>G	ENSP00000514470.1:n.*1959A>G
ENST00000699602.1:c.3578A>G	ENSP00000514471.1:p.Asn1193Ser
ENST00000699604.1:c.*3408A>G	ENSP00000514472.1:n.*3408A>G
ENST00000699605.1:c.3158A>G	ENSP00000514473.1:p.Asn1053Ser
ENST00000685018.1:c.332A>G	ENSP00000510194.1:p.Asn111Ser
ENST00000687278.1:c.1371A>G	ENSP00000509593.1:n.1371A>G
ENST00000689011.1:c.166A>G
ENST00000003084.11:c.3584A>G MANE Select	ENSP00000003084.6:p.Asn1195Ser
ENST00000647720.1:c.1167+67A>G
ENST00000648260.1:c.2366A>G	ENSP00000497957.1:p.Asn789Ser
ENST00000649406.1:c.3401A>G	ENSP00000497965.1:p.Asn1134Ser
ENST00000649781.1:c.3401A>G	ENSP00000497203.1:p.Asn1134Ser
ENST00000003084.10:c.3584A>G	ENSP00000003084.6:p.Asn1195Ser
ENST00000426809.5:c.3494A>G	ENSP00000389119.1:p.Asn1165Ser
ENST00000468795.1:c.409A>G
NM_000492.3:c.3584A>G , LRG_663t1:c.3584A>G	NP_000483.3:p.Asn1195Ser
XM_011515751.1:c.3674A>G	XP_011514053.1:p.Asn1225Ser
XM_011515752.1:c.3674A>G	XP_011514054.1:p.Asn1225Ser
XM_011515753.1:c.3341A>G	XP_011514055.1:p.Asn1114Ser
XM_011515754.1:c.3341A>G	XP_011514056.1:p.Asn1114Ser
NM_000492.4:c.3584A>G MANE Select	NP_000483.3:p.Asn1195Ser