Canonical Allele Identifier: CA369653540

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 864388
• ClinVar RCV Id: RCV001071565
• dbSNP Id: rs1803409136
• MyVariant Identifiers: chr7:g.143048744G>T (hg19) ; chr7:g.143351651G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351651G>T , CM000669.2:g.143351651G>T	GRCh38
NC_000007.13:g.143048744G>T , CM000669.1:g.143048744G>T	GRCh37
NC_000007.12:g.142758866G>T	NCBI36
NG_009815.1:g.40526G>T
NG_009815.2:g.40526G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2653G>T	ENSP00000498052.2:p.Ala885Ser
ENST00000343257.7:c.2653G>T MANE Select	ENSP00000339867.2:p.Ala885Ser
ENST00000432192.6:c.2477G>T
ENST00000343257.6:c.2653G>T	ENSP00000339867.2:p.Ala885Ser
NM_000083.2:c.2653G>T	NP_000074.2:p.Ala885Ser
NR_046453.1:n.2593G>T
XM_011515781.1:c.2677G>T	XP_011514083.1:p.Ala893Ser
XM_011515782.1:c.1399G>T	XP_011514084.1:p.Ala467Ser
XM_011515782.2:c.1399G>T	XP_011514084.1:p.Ala467Ser
XM_017011739.1:c.2227G>T	XP_016867228.1:p.Ala743Ser
XM_017011740.1:c.2203G>T	XP_016867229.1:p.Ala735Ser
NM_000083.3:c.2653G>T MANE Select	NP_000074.3:p.Ala885Ser
NR_046453.2:n.2608G>T