Canonical Allele Identifier: CA164947982
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs976262028
MyVariant Identifiers: chr7:g.117118768A>G (hg19) chr7:g.117478714A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117478714A>G , CM000669.2:g.117478714A>G GRCh38
NC_000007.13:g.117118768A>G , CM000669.1:g.117118768A>G GRCh37
NC_000007.12:g.116906004A>G NCBI36
NG_016465.4:g.17931A>G , LRG_663:g.17931A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000446805.2:c.-526+292A>G ENSP00000417012.1:n.-526+292A>G
ENST00000673785.1:c.-406+12883A>G ENSP00000501235.1:n.-406+12883A>G
ENST00000546407.1:n.166+2906A>G
XM_011515751.1:c.41+292A>G XP_011514053.1:n.41+292A>G
XM_011515752.1:c.41+292A>G XP_011514054.1:n.41+292A>G
XM_011515754.1:c.-1383A>G XP_011514056.1:n.-1383A>G
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