Canonical Allele Identifier: CA369646655

Gene: CLCN1

Linked Data

• dbSNP Id: rs1382065561
• gnomAD v2: 7-143039172-A-C
• gnomAD v4: 7-143342079-A-C
• MyVariant Identifiers: chr7:g.143039172A>C (hg19) ; chr7:g.143342079A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342079A>C , CM000669.2:g.143342079A>C	GRCh38
NC_000007.13:g.143039172A>C , CM000669.1:g.143039172A>C	GRCh37
NC_000007.12:g.142749294A>C	NCBI36
NG_009815.1:g.30954A>C
NG_009815.2:g.30954A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1733A>C	ENSP00000498052.2:p.Tyr578Ser
ENST00000343257.7:c.1733A>C MANE Select	ENSP00000339867.2:p.Tyr578Ser
ENST00000432192.6:c.1557A>C
ENST00000343257.6:c.1733A>C	ENSP00000339867.2:p.Tyr578Ser
NM_000083.2:c.1733A>C	NP_000074.2:p.Tyr578Ser
NR_046453.1:n.1673A>C
XM_011515781.1:c.1757A>C	XP_011514083.1:p.Tyr586Ser
XM_011515782.1:c.479A>C	XP_011514084.1:p.Tyr160Ser
XM_011515782.2:c.479A>C	XP_011514084.1:p.Tyr160Ser
XM_017011739.1:c.1307A>C	XP_016867228.1:p.Tyr436Ser
XM_017011740.1:c.1283A>C	XP_016867229.1:p.Tyr428Ser
NM_000083.3:c.1733A>C MANE Select	NP_000074.3:p.Tyr578Ser
NR_046453.2:n.1688A>C