Canonical Allele Identifier: CA369654218

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143049012G>C (hg19) ; chr7:g.143351919G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351919G>C , CM000669.2:g.143351919G>C	GRCh38
NC_000007.13:g.143049012G>C , CM000669.1:g.143049012G>C	GRCh37
NC_000007.12:g.142759134G>C	NCBI36
NG_009815.1:g.40794G>C
NG_009815.2:g.40794G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2921G>C	ENSP00000498052.2:p.Ser974Thr
ENST00000343257.7:c.2921G>C MANE Select	ENSP00000339867.2:p.Ser974Thr
ENST00000343257.6:c.2921G>C	ENSP00000339867.2:p.Ser974Thr
NM_000083.2:c.2921G>C	NP_000074.2:p.Ser974Thr
NR_046453.1:n.2861G>C
XM_011515781.1:c.2945G>C	XP_011514083.1:p.Ser982Thr
XM_011515782.1:c.1667G>C	XP_011514084.1:p.Ser556Thr
XM_011515782.2:c.1667G>C	XP_011514084.1:p.Ser556Thr
XM_017011739.1:c.2495G>C	XP_016867228.1:p.Ser832Thr
XM_017011740.1:c.2471G>C	XP_016867229.1:p.Ser824Thr
NM_000083.3:c.2921G>C MANE Select	NP_000074.3:p.Ser974Thr
NR_046453.2:n.2876G>C