Canonical Allele Identifier: CA369653554

Gene: CLCN1

Linked Data

• dbSNP Id: rs1457895748
• gnomAD v2: 7-143048750-T-C
• gnomAD v4: 7-143351657-T-C
• MyVariant Identifiers: chr7:g.143048750T>C (hg19) ; chr7:g.143351657T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351657T>C , CM000669.2:g.143351657T>C	GRCh38
NC_000007.13:g.143048750T>C , CM000669.1:g.143048750T>C	GRCh37
NC_000007.12:g.142758872T>C	NCBI36
NG_009815.1:g.40532T>C
NG_009815.2:g.40532T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2659T>C	ENSP00000498052.2:p.Phe887Leu
ENST00000343257.7:c.2659T>C MANE Select	ENSP00000339867.2:p.Phe887Leu
ENST00000432192.6:c.2483T>C
ENST00000343257.6:c.2659T>C	ENSP00000339867.2:p.Phe887Leu
NM_000083.2:c.2659T>C	NP_000074.2:p.Phe887Leu
NR_046453.1:n.2599T>C
XM_011515781.1:c.2683T>C	XP_011514083.1:p.Phe895Leu
XM_011515782.1:c.1405T>C	XP_011514084.1:p.Phe469Leu
XM_011515782.2:c.1405T>C	XP_011514084.1:p.Phe469Leu
XM_017011739.1:c.2233T>C	XP_016867228.1:p.Phe745Leu
XM_017011740.1:c.2209T>C	XP_016867229.1:p.Phe737Leu
NM_000083.3:c.2659T>C MANE Select	NP_000074.3:p.Phe887Leu
NR_046453.2:n.2614T>C