Canonical Allele Identifier: CA369653429

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143048690C>T (hg19) ; chr7:g.143351597C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351597C>T , CM000669.2:g.143351597C>T	GRCh38
NC_000007.13:g.143048690C>T , CM000669.1:g.143048690C>T	GRCh37
NC_000007.12:g.142758812C>T	NCBI36
NG_009815.1:g.40472C>T
NG_009815.2:g.40472C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2599C>T	ENSP00000498052.2:p.Gln867Ter
ENST00000343257.7:c.2599C>T MANE Select	ENSP00000339867.2:p.Gln867Ter
ENST00000432192.6:c.2423C>T
ENST00000343257.6:c.2599C>T	ENSP00000339867.2:p.Gln867Ter
NM_000083.2:c.2599C>T	NP_000074.2:p.Gln867Ter
NR_046453.1:n.2539C>T
XM_011515781.1:c.2623C>T	XP_011514083.1:p.Gln875Ter
XM_011515782.1:c.1345C>T	XP_011514084.1:p.Gln449Ter
XM_011515782.2:c.1345C>T	XP_011514084.1:p.Gln449Ter
XM_017011739.1:c.2173C>T	XP_016867228.1:p.Gln725Ter
XM_017011740.1:c.2149C>T	XP_016867229.1:p.Gln717Ter
NM_000083.3:c.2599C>T MANE Select	NP_000074.3:p.Gln867Ter
NR_046453.2:n.2554C>T