Canonical Allele Identifier: CA368990374

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117250594G>C (hg19) ; chr7:g.117610540G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610540G>C , CM000669.2:g.117610540G>C	GRCh38
NC_000007.13:g.117250594G>C , CM000669.1:g.117250594G>C	GRCh37
NC_000007.12:g.117037830G>C	NCBI36
NG_016465.4:g.149757G>C , LRG_663:g.149757G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3010G>C	ENSP00000497673.2:p.Ala1004Pro
ENST00000647978.2:c.*2724G>C	ENSP00000497658.1:n.*2724G>C
ENST00000649781.2:c.2827G>C	ENSP00000497203.1:p.Ala943Pro
ENST00000685018.2:c.3010G>C	ENSP00000510194.2:p.Ala1004Pro
ENST00000687278.2:c.3010G>C	ENSP00000509593.2:p.Ala1004Pro
ENST00000699585.1:c.3010G>C	ENSP00000514456.1:p.Ala1004Pro
ENST00000699598.1:c.3010G>C	ENSP00000514467.1:p.Ala1004Pro
ENST00000699599.1:c.3010G>C	ENSP00000514468.1:p.Ala1004Pro
ENST00000699600.1:c.3010G>C	ENSP00000514469.1:p.Ala1004Pro
ENST00000699601.1:c.*1310G>C	ENSP00000514470.1:n.*1310G>C
ENST00000699602.1:c.3010G>C	ENSP00000514471.1:p.Ala1004Pro
ENST00000699604.1:c.*2834G>C	ENSP00000514472.1:n.*2834G>C
ENST00000699605.1:c.2584G>C	ENSP00000514473.1:p.Ala862Pro
ENST00000687278.1:c.601G>C	ENSP00000509593.1:p.Ala201Pro
ENST00000003084.11:c.3010G>C MANE Select	ENSP00000003084.6:p.Ala1004Pro
ENST00000647720.1:c.660G>C
ENST00000648260.1:c.1792G>C	ENSP00000497957.1:p.Ala598Pro
ENST00000649406.1:c.2827G>C	ENSP00000497965.1:p.Ala943Pro
ENST00000649781.1:c.2827G>C	ENSP00000497203.1:p.Ala943Pro
ENST00000003084.10:c.3010G>C	ENSP00000003084.6:p.Ala1004Pro
ENST00000426809.5:c.2920G>C	ENSP00000389119.1:p.Ala974Pro
NM_000492.3:c.3010G>C , LRG_663t1:c.3010G>C	NP_000483.3:p.Ala1004Pro
XM_011515751.1:c.3100G>C	XP_011514053.1:p.Ala1034Pro
XM_011515752.1:c.3100G>C	XP_011514054.1:p.Ala1034Pro
XM_011515753.1:c.2767G>C	XP_011514055.1:p.Ala923Pro
XM_011515754.1:c.2767G>C	XP_011514056.1:p.Ala923Pro
NM_000492.4:c.3010G>C MANE Select	NP_000483.3:p.Ala1004Pro