Canonical Allele Identifier: CA249697269

Gene: LRCH1

Linked Data

• dbSNP Id: rs1006823968
• gnomAD v3: 13-46593689-C-T
• gnomAD v4: 13-46593689-C-T
• MyVariant Identifiers: chr13:g.47167824C>T (hg19) ; chr13:g.46593689C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.46593689C>T , CM000675.2:g.46593689C>T	GRCh38
NC_000013.10:g.47167824C>T , CM000675.1:g.47167824C>T	GRCh37
NC_000013.9:g.46065825C>T	NCBI36
NG_021335.1:g.45529C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389797.8:c.307+39986C>T MANE Select	ENSP00000374447.3:n.307+39986C>T
ENST00000311191.10:c.307+39986C>T	ENSP00000308493.5:n.307+39986C>T
ENST00000389797.7:c.307+39986C>T	ENSP00000374447.3:n.307+39986C>T
ENST00000389798.7:c.307+39986C>T	ENSP00000374448.3:n.307+39986C>T
ENST00000443945.6:n.534+39986C>T
NM_001164211.1:c.307+39986C>T	NP_001157683.1:n.307+39986C>T
NM_001164213.1:c.307+39986C>T	NP_001157685.1:n.307+39986C>T
NM_015116.2:c.307+39986C>T	NP_055931.1:n.307+39986C>T
XM_011535013.1:c.307+39986C>T	XP_011533315.1:n.307+39986C>T
XM_017020483.2:c.307+39986C>T	XP_016875972.1:n.307+39986C>T
XM_017020484.1:c.-329+39986C>T	XP_016875973.1:n.-329+39986C>T
XR_001749525.2:n.534+39986C>T
NM_001164211.2:c.307+39986C>T MANE Select	NP_001157683.2:n.307+39986C>T
NM_001164213.2:c.307+39986C>T	NP_001157685.2:n.307+39986C>T
NM_015116.3:c.307+39986C>T	NP_055931.2:n.307+39986C>T