Canonical Allele Identifier: CA4451363

Gene: CFTR

Linked Data

• dbSNP Id: rs781336456
• ExAC: 7:117250588 A / T
• gnomAD v2: 7-117250588-A-T
• gnomAD v3: 7-117610534-A-T
• gnomAD v4: 7-117610534-A-T
• MyVariant Identifiers: chr7:g.117250588A>T (hg19) ; chr7:g.117610534A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610534A>T , CM000669.2:g.117610534A>T	GRCh38
NC_000007.13:g.117250588A>T , CM000669.1:g.117250588A>T	GRCh37
NC_000007.12:g.117037824A>T	NCBI36
NG_016465.4:g.149751A>T , LRG_663:g.149751A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3004A>T	ENSP00000497673.2:p.Ile1002Phe
ENST00000647978.2:c.*2718A>T	ENSP00000497658.1:n.*2718A>T
ENST00000649781.2:c.2821A>T	ENSP00000497203.1:p.Ile941Phe
ENST00000685018.2:c.3004A>T	ENSP00000510194.2:p.Ile1002Phe
ENST00000687278.2:c.3004A>T	ENSP00000509593.2:p.Ile1002Phe
ENST00000699585.1:c.3004A>T	ENSP00000514456.1:p.Ile1002Phe
ENST00000699598.1:c.3004A>T	ENSP00000514467.1:p.Ile1002Phe
ENST00000699599.1:c.3004A>T	ENSP00000514468.1:p.Ile1002Phe
ENST00000699600.1:c.3004A>T	ENSP00000514469.1:p.Ile1002Phe
ENST00000699601.1:c.*1304A>T	ENSP00000514470.1:n.*1304A>T
ENST00000699602.1:c.3004A>T	ENSP00000514471.1:p.Ile1002Phe
ENST00000699604.1:c.*2828A>T	ENSP00000514472.1:n.*2828A>T
ENST00000699605.1:c.2578A>T	ENSP00000514473.1:p.Ile860Phe
ENST00000687278.1:c.595A>T	ENSP00000509593.1:p.Ile199Phe
ENST00000003084.11:c.3004A>T MANE Select	ENSP00000003084.6:p.Ile1002Phe
ENST00000647720.1:c.654A>T
ENST00000648260.1:c.1786A>T	ENSP00000497957.1:p.Ile596Phe
ENST00000649406.1:c.2821A>T	ENSP00000497965.1:p.Ile941Phe
ENST00000649781.1:c.2821A>T	ENSP00000497203.1:p.Ile941Phe
ENST00000003084.10:c.3004A>T	ENSP00000003084.6:p.Ile1002Phe
ENST00000426809.5:c.2914A>T	ENSP00000389119.1:p.Ile972Phe
NM_000492.3:c.3004A>T , LRG_663t1:c.3004A>T	NP_000483.3:p.Ile1002Phe
XM_011515751.1:c.3094A>T	XP_011514053.1:p.Ile1032Phe
XM_011515752.1:c.3094A>T	XP_011514054.1:p.Ile1032Phe
XM_011515753.1:c.2761A>T	XP_011514055.1:p.Ile921Phe
XM_011515754.1:c.2761A>T	XP_011514056.1:p.Ile921Phe
NM_000492.4:c.3004A>T MANE Select	NP_000483.3:p.Ile1002Phe