Canonical Allele Identifier: CA369684387

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143018835T>A (hg19) ; chr7:g.143321742T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321742T>A , CM000669.2:g.143321742T>A	GRCh38
NC_000007.13:g.143018835T>A , CM000669.1:g.143018835T>A	GRCh37
NC_000007.12:g.142728957T>A	NCBI36
NG_009815.1:g.10617T>A
NG_009815.2:g.10617T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.590T>A	ENSP00000498052.2:p.Ile197Lys
ENST00000343257.7:c.590T>A MANE Select	ENSP00000339867.2:p.Ile197Lys
ENST00000432192.6:c.358T>A
ENST00000455478.6:c.44T>A	ENSP00000400027.2:p.Ile15Lys
ENST00000650516.1:c.590T>A	ENSP00000498052.1:p.Ile197Lys
ENST00000343257.6:c.590T>A	ENSP00000339867.2:p.Ile197Lys
ENST00000432192.5:c.48T>A
ENST00000455478.5:c.48T>A
ENST00000495612.1:n.48T>A
NM_000083.2:c.590T>A	NP_000074.2:p.Ile197Lys
NR_046453.1:n.677T>A
XM_011515781.1:c.590T>A	XP_011514083.1:p.Ile197Lys
XM_017011739.1:c.297T>A	XP_016867228.1:p.Asn99Lys
XM_017011740.1:c.297T>A	XP_016867229.1:p.Asn99Lys
NM_000083.3:c.590T>A MANE Select	NP_000074.3:p.Ile197Lys
NR_046453.2:n.692T>A