Canonical Allele Identifier: CA577223241

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2894643
• ClinVar RCV Id: RCV003618857
• dbSNP Id: rs1308078444
• gnomAD v2: 7-117267835-A-T
• gnomAD v4: 7-117627781-A-T
• MyVariant Identifiers: chr7:g.117267835A>T (hg19) ; chr7:g.117627781A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627781A>T , CM000669.2:g.117627781A>T	GRCh38
NC_000007.13:g.117267835A>T , CM000669.1:g.117267835A>T	GRCh37
NC_000007.12:g.117055071A>T	NCBI36
NG_016465.4:g.166998A>T , LRG_663:g.166998A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3517+211A>T	ENSP00000497673.2:n.3517+211A>T
ENST00000647978.2:c.*3431+11A>T	ENSP00000497658.1:n.*3431+11A>T
ENST00000649781.2:c.3534+11A>T	ENSP00000497203.1:n.3534+11A>T
ENST00000685018.2:c.3717+11A>T	ENSP00000510194.2:n.3717+11A>T
ENST00000687278.2:c.*370+11A>T	ENSP00000509593.2:n.*370+11A>T
ENST00000699585.1:c.3517+211A>T	ENSP00000514456.1:n.3517+211A>T
ENST00000699598.1:c.3717+11A>T	ENSP00000514467.1:n.3717+11A>T
ENST00000699599.1:c.3717+11A>T	ENSP00000514468.1:n.3717+11A>T
ENST00000699600.1:c.*378+11A>T	ENSP00000514469.1:n.*378+11A>T
ENST00000699601.1:c.*2092+11A>T	ENSP00000514470.1:n.*2092+11A>T
ENST00000699602.1:c.3711+11A>T	ENSP00000514471.1:n.3711+11A>T
ENST00000699604.1:c.*3541+11A>T	ENSP00000514472.1:n.*3541+11A>T
ENST00000699605.1:c.3291+11A>T	ENSP00000514473.1:n.3291+11A>T
ENST00000685018.1:c.465+11A>T	ENSP00000510194.1:n.465+11A>T
ENST00000687278.1:c.1504+11A>T	ENSP00000509593.1:n.1504+11A>T
ENST00000689011.1:c.299+11A>T
ENST00000003084.11:c.3717+11A>T MANE Select	ENSP00000003084.6:n.3717+11A>T
ENST00000647720.1:c.1167+211A>T
ENST00000648260.1:c.2510A>T	ENSP00000497957.1:p.Glu837Val
ENST00000649406.1:c.3545A>T	ENSP00000497965.1:p.Glu1182Val
ENST00000649781.1:c.3534+11A>T	ENSP00000497203.1:n.3534+11A>T
ENST00000003084.10:c.3717+11A>T	ENSP00000003084.6:n.3717+11A>T
ENST00000426809.5:c.3627+11A>T	ENSP00000389119.1:n.3627+11A>T
ENST00000468795.1:c.553A>T
NM_000492.3:c.3717+11A>T , LRG_663t1:c.3717+11A>T	NP_000483.3:n.3717+11A>T
XM_011515751.1:c.3807+11A>T	XP_011514053.1:n.3807+11A>T
XM_011515752.1:c.3807+11A>T	XP_011514054.1:n.3807+11A>T
XM_011515753.1:c.3474+11A>T	XP_011514055.1:n.3474+11A>T
XM_011515754.1:c.3474+11A>T	XP_011514056.1:n.3474+11A>T
NM_000492.4:c.3717+11A>T MANE Select	NP_000483.3:n.3717+11A>T