Canonical Allele Identifier: CA368996342

Gene: CFTR

Linked Data

• dbSNP Id: rs397508581
• MyVariant Identifiers: chr7:g.117267653C>A (hg19) ; chr7:g.117627599C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627599C>A , CM000669.2:g.117627599C>A	GRCh38
NC_000007.13:g.117267653C>A , CM000669.1:g.117267653C>A	GRCh37
NC_000007.12:g.117054889C>A	NCBI36
NG_016465.4:g.166816C>A , LRG_663:g.166816C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3517+29C>A	ENSP00000497673.2:n.3517+29C>A
ENST00000647978.2:c.*3260C>A	ENSP00000497658.1:n.*3260C>A
ENST00000649781.2:c.3363C>A	ENSP00000497203.1:p.Tyr1121Ter
ENST00000685018.2:c.3546C>A	ENSP00000510194.2:p.Tyr1182Ter
ENST00000687278.2:c.*199C>A	ENSP00000509593.2:n.*199C>A
ENST00000699585.1:c.3517+29C>A	ENSP00000514456.1:n.3517+29C>A
ENST00000699598.1:c.3546C>A	ENSP00000514467.1:p.Tyr1182Ter
ENST00000699599.1:c.3546C>A	ENSP00000514468.1:p.Tyr1182Ter
ENST00000699600.1:c.*207C>A	ENSP00000514469.1:n.*207C>A
ENST00000699601.1:c.*1921C>A	ENSP00000514470.1:n.*1921C>A
ENST00000699602.1:c.3540C>A	ENSP00000514471.1:p.Tyr1180Ter
ENST00000699604.1:c.*3370C>A	ENSP00000514472.1:n.*3370C>A
ENST00000699605.1:c.3120C>A	ENSP00000514473.1:p.Tyr1040Ter
ENST00000685018.1:c.294C>A	ENSP00000510194.1:p.Tyr98Ter
ENST00000687278.1:c.1333C>A	ENSP00000509593.1:n.1333C>A
ENST00000689011.1:c.128C>A
ENST00000003084.11:c.3546C>A MANE Select	ENSP00000003084.6:p.Tyr1182Ter
ENST00000647720.1:c.1167+29C>A
ENST00000648260.1:c.2328C>A	ENSP00000497957.1:p.Tyr776Ter
ENST00000649406.1:c.3363C>A	ENSP00000497965.1:p.Tyr1121Ter
ENST00000649781.1:c.3363C>A	ENSP00000497203.1:p.Tyr1121Ter
ENST00000003084.10:c.3546C>A	ENSP00000003084.6:p.Tyr1182Ter
ENST00000426809.5:c.3456C>A	ENSP00000389119.1:p.Tyr1152Ter
ENST00000468795.1:c.371C>A
NM_000492.3:c.3546C>A , LRG_663t1:c.3546C>A	NP_000483.3:p.Tyr1182Ter
XM_011515751.1:c.3636C>A	XP_011514053.1:p.Tyr1212Ter
XM_011515752.1:c.3636C>A	XP_011514054.1:p.Tyr1212Ter
XM_011515753.1:c.3303C>A	XP_011514055.1:p.Tyr1101Ter
XM_011515754.1:c.3303C>A	XP_011514056.1:p.Tyr1101Ter
NM_000492.4:c.3546C>A MANE Select	NP_000483.3:p.Tyr1182Ter