Canonical Allele Identifier: CA327230

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1706057
• ClinVar RCV Id: RCV002284587
• dbSNP Id: rs397508582
• MyVariant Identifiers: chr7:g.117267663C>T (hg19) ; chr7:g.117627609C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627609C>T , CM000669.2:g.117627609C>T	GRCh38
NC_000007.13:g.117267663C>T , CM000669.1:g.117267663C>T	GRCh37
NC_000007.12:g.117054899C>T	NCBI36
NG_016465.4:g.166826C>T , LRG_663:g.166826C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3517+39C>T	ENSP00000497673.2:n.3517+39C>T
ENST00000647978.2:c.*3270C>T	ENSP00000497658.1:n.*3270C>T
ENST00000649781.2:c.3373C>T	ENSP00000497203.1:p.Gln1125Ter
ENST00000685018.2:c.3556C>T	ENSP00000510194.2:p.Gln1186Ter
ENST00000687278.2:c.*209C>T	ENSP00000509593.2:n.*209C>T
ENST00000699585.1:c.3517+39C>T	ENSP00000514456.1:n.3517+39C>T
ENST00000699598.1:c.3556C>T	ENSP00000514467.1:p.Gln1186Ter
ENST00000699599.1:c.3556C>T	ENSP00000514468.1:p.Gln1186Ter
ENST00000699600.1:c.*217C>T	ENSP00000514469.1:n.*217C>T
ENST00000699601.1:c.*1931C>T	ENSP00000514470.1:n.*1931C>T
ENST00000699602.1:c.3550C>T	ENSP00000514471.1:p.Gln1184Ter
ENST00000699604.1:c.*3380C>T	ENSP00000514472.1:n.*3380C>T
ENST00000699605.1:c.3130C>T	ENSP00000514473.1:p.Gln1044Ter
ENST00000685018.1:c.304C>T	ENSP00000510194.1:p.Gln102Ter
ENST00000687278.1:c.1343C>T	ENSP00000509593.1:n.1343C>T
ENST00000689011.1:c.138C>T
ENST00000003084.11:c.3556C>T MANE Select	ENSP00000003084.6:p.Gln1186Ter
ENST00000647720.1:c.1167+39C>T
ENST00000648260.1:c.2338C>T	ENSP00000497957.1:p.Gln780Ter
ENST00000649406.1:c.3373C>T	ENSP00000497965.1:p.Gln1125Ter
ENST00000649781.1:c.3373C>T	ENSP00000497203.1:p.Gln1125Ter
ENST00000003084.10:c.3556C>T	ENSP00000003084.6:p.Gln1186Ter
ENST00000426809.5:c.3466C>T	ENSP00000389119.1:p.Gln1156Ter
ENST00000468795.1:c.381C>T
NM_000492.3:c.3556C>T , LRG_663t1:c.3556C>T	NP_000483.3:p.Gln1186Ter
XM_011515751.1:c.3646C>T	XP_011514053.1:p.Gln1216Ter
XM_011515752.1:c.3646C>T	XP_011514054.1:p.Gln1216Ter
XM_011515753.1:c.3313C>T	XP_011514055.1:p.Gln1105Ter
XM_011515754.1:c.3313C>T	XP_011514056.1:p.Gln1105Ter
NM_000492.4:c.3556C>T MANE Select	NP_000483.3:p.Gln1186Ter