Canonical Allele Identifier: CA369653885

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143048918G>T (hg19) ; chr7:g.143351825G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351825G>T , CM000669.2:g.143351825G>T	GRCh38
NC_000007.13:g.143048918G>T , CM000669.1:g.143048918G>T	GRCh37
NC_000007.12:g.142759040G>T	NCBI36
NG_009815.1:g.40700G>T
NG_009815.2:g.40700G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2827G>T	ENSP00000498052.2:p.Ala943Ser
ENST00000343257.7:c.2827G>T MANE Select	ENSP00000339867.2:p.Ala943Ser
ENST00000343257.6:c.2827G>T	ENSP00000339867.2:p.Ala943Ser
NM_000083.2:c.2827G>T	NP_000074.2:p.Ala943Ser
NR_046453.1:n.2767G>T
XM_011515781.1:c.2851G>T	XP_011514083.1:p.Ala951Ser
XM_011515782.1:c.1573G>T	XP_011514084.1:p.Ala525Ser
XM_011515782.2:c.1573G>T	XP_011514084.1:p.Ala525Ser
XM_017011739.1:c.2401G>T	XP_016867228.1:p.Ala801Ser
XM_017011740.1:c.2377G>T	XP_016867229.1:p.Ala793Ser
NM_000083.3:c.2827G>T MANE Select	NP_000074.3:p.Ala943Ser
NR_046453.2:n.2782G>T