Canonical Allele Identifier: CA368996208

Gene: CFTR

Linked Data

• dbSNP Id: rs368393738
• MyVariant Identifiers: chr7:g.117267624G>C (hg19) ; chr7:g.117627570G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627570G>C , CM000669.2:g.117627570G>C	GRCh38
NC_000007.13:g.117267624G>C , CM000669.1:g.117267624G>C	GRCh37
NC_000007.12:g.117054860G>C	NCBI36
NG_016465.4:g.166787G>C , LRG_663:g.166787G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3517G>C	ENSP00000497673.2:p.Gly1173Arg
ENST00000647978.2:c.*3231G>C	ENSP00000497658.1:n.*3231G>C
ENST00000649781.2:c.3334G>C	ENSP00000497203.1:p.Gly1112Arg
ENST00000685018.2:c.3517G>C	ENSP00000510194.2:p.Gly1173Arg
ENST00000687278.2:c.*170G>C	ENSP00000509593.2:n.*170G>C
ENST00000699585.1:c.3517G>C	ENSP00000514456.1:p.Gly1173Arg
ENST00000699598.1:c.3517G>C	ENSP00000514467.1:p.Gly1173Arg
ENST00000699599.1:c.3517G>C	ENSP00000514468.1:p.Gly1173Arg
ENST00000699600.1:c.*178G>C	ENSP00000514469.1:n.*178G>C
ENST00000699601.1:c.*1892G>C	ENSP00000514470.1:n.*1892G>C
ENST00000699602.1:c.3511G>C	ENSP00000514471.1:p.Gly1171Arg
ENST00000699604.1:c.*3341G>C	ENSP00000514472.1:n.*3341G>C
ENST00000699605.1:c.3091G>C	ENSP00000514473.1:p.Gly1031Arg
ENST00000685018.1:c.265G>C	ENSP00000510194.1:p.Gly89Arg
ENST00000687278.1:c.1304G>C	ENSP00000509593.1:n.1304G>C
ENST00000689011.1:c.99G>C
ENST00000003084.11:c.3517G>C MANE Select	ENSP00000003084.6:p.Gly1173Arg
ENST00000647720.1:c.1167G>C
ENST00000648260.1:c.2299G>C	ENSP00000497957.1:p.Gly767Arg
ENST00000649406.1:c.3334G>C	ENSP00000497965.1:p.Gly1112Arg
ENST00000649781.1:c.3334G>C	ENSP00000497203.1:p.Gly1112Arg
ENST00000003084.10:c.3517G>C	ENSP00000003084.6:p.Gly1173Arg
ENST00000426809.5:c.3427G>C	ENSP00000389119.1:p.Gly1143Arg
ENST00000468795.1:c.342G>C
NM_000492.3:c.3517G>C , LRG_663t1:c.3517G>C	NP_000483.3:p.Gly1173Arg
XM_011515751.1:c.3607G>C	XP_011514053.1:p.Gly1203Arg
XM_011515752.1:c.3607G>C	XP_011514054.1:p.Gly1203Arg
XM_011515753.1:c.3274G>C	XP_011514055.1:p.Gly1092Arg
XM_011515754.1:c.3274G>C	XP_011514056.1:p.Gly1092Arg
NM_000492.4:c.3517G>C MANE Select	NP_000483.3:p.Gly1173Arg