Canonical Allele Identifier: CA369646670

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143039177A>T (hg19) ; chr7:g.143342084A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342084A>T , CM000669.2:g.143342084A>T	GRCh38
NC_000007.13:g.143039177A>T , CM000669.1:g.143039177A>T	GRCh37
NC_000007.12:g.142749299A>T	NCBI36
NG_009815.1:g.30959A>T
NG_009815.2:g.30959A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1738A>T	ENSP00000498052.2:p.Ser580Cys
ENST00000343257.7:c.1738A>T MANE Select	ENSP00000339867.2:p.Ser580Cys
ENST00000432192.6:c.1562A>T
ENST00000343257.6:c.1738A>T	ENSP00000339867.2:p.Ser580Cys
NM_000083.2:c.1738A>T	NP_000074.2:p.Ser580Cys
NR_046453.1:n.1678A>T
XM_011515781.1:c.1762A>T	XP_011514083.1:p.Ser588Cys
XM_011515782.1:c.484A>T	XP_011514084.1:p.Ser162Cys
XM_011515782.2:c.484A>T	XP_011514084.1:p.Ser162Cys
XM_017011739.1:c.1312A>T	XP_016867228.1:p.Ser438Cys
XM_017011740.1:c.1288A>T	XP_016867229.1:p.Ser430Cys
NM_000083.3:c.1738A>T MANE Select	NP_000074.3:p.Ser580Cys
NR_046453.2:n.1693A>T