Canonical Allele Identifier: CA369654242

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143049020T>G (hg19) ; chr7:g.143351927T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351927T>G , CM000669.2:g.143351927T>G	GRCh38
NC_000007.13:g.143049020T>G , CM000669.1:g.143049020T>G	GRCh37
NC_000007.12:g.142759142T>G	NCBI36
NG_009815.1:g.40802T>G
NG_009815.2:g.40802T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2929T>G	ENSP00000498052.2:p.Ser977Ala
ENST00000343257.7:c.2929T>G MANE Select	ENSP00000339867.2:p.Ser977Ala
ENST00000343257.6:c.2929T>G	ENSP00000339867.2:p.Ser977Ala
NM_000083.2:c.2929T>G	NP_000074.2:p.Ser977Ala
NR_046453.1:n.2869T>G
XM_011515781.1:c.2953T>G	XP_011514083.1:p.Ser985Ala
XM_011515782.1:c.1675T>G	XP_011514084.1:p.Ser559Ala
XM_011515782.2:c.1675T>G	XP_011514084.1:p.Ser559Ala
XM_017011739.1:c.2503T>G	XP_016867228.1:p.Ser835Ala
XM_017011740.1:c.2479T>G	XP_016867229.1:p.Ser827Ala
NM_000083.3:c.2929T>G MANE Select	NP_000074.3:p.Ser977Ala
NR_046453.2:n.2884T>G