Canonical Allele Identifier: CA369687476

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143021514A>C (hg19) ; chr7:g.143324421A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143324421A>C , CM000669.2:g.143324421A>C	GRCh38
NC_000007.13:g.143021514A>C , CM000669.1:g.143021514A>C	GRCh37
NC_000007.12:g.142731636A>C	NCBI36
NG_009815.1:g.13296A>C
NG_009815.2:g.13296A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.853+524A>C	ENSP00000498052.2:n.853+524A>C
ENST00000343257.7:c.782A>C MANE Select	ENSP00000339867.2:p.Tyr261Ser
ENST00000432192.6:c.606A>C
ENST00000455478.6:c.370A>C	ENSP00000400027.2:n.370A>C
ENST00000650516.1:c.853+524A>C	ENSP00000498052.1:n.853+524A>C
ENST00000343257.6:c.782A>C	ENSP00000339867.2:p.Tyr261Ser
ENST00000432192.5:c.296A>C
ENST00000455478.5:c.374A>C
ENST00000495612.1:n.154+2573A>C
NM_000083.2:c.782A>C	NP_000074.2:p.Tyr261Ser
NR_046453.1:n.872A>C
XM_011515781.1:c.853+524A>C	XP_011514083.1:n.853+524A>C
XM_017011739.1:c.403+2573A>C	XP_016867228.1:n.403+2573A>C
XM_017011740.1:c.403+2573A>C	XP_016867229.1:n.403+2573A>C
NM_000083.3:c.782A>C MANE Select	NP_000074.3:p.Tyr261Ser
NR_046453.2:n.887A>C