Canonical Allele Identifier: CA187693491

Gene: LRRC14

Linked Data

• dbSNP Id: rs1050999606
• gnomAD v3: 8-144519057-T-C
• gnomAD v4: 8-144519057-T-C
• MyVariant Identifiers: chr8:g.145744441T>C (hg19) ; chr8:g.144519057T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144519057T>C , CM000670.2:g.144519057T>C	GRCh38
NC_000008.10:g.145744441T>C , CM000670.1:g.145744441T>C	GRCh37
NC_000008.9:g.145715249T>C	NCBI36
NG_016430.1:g.3770A>G
NG_033083.1:g.6093T>C
NG_016430.2:g.3770A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000292524.6:c.-111-558T>C MANE Select	ENSP00000292524.1:n.-111-558T>C
ENST00000292524.5:c.-111-558T>C	ENSP00000292524.1:n.-111-558T>C
ENST00000525766.1:c.-112+242T>C	ENSP00000434738.1:n.-112+242T>C
ENST00000527730.1:c.-25-644T>C	ENSP00000436452.1:n.-25-644T>C
ENST00000529022.5:c.-112+242T>C	ENSP00000434768.1:n.-112+242T>C
ENST00000530854.1:c.-26+242T>C	ENSP00000435985.1:n.-26+242T>C
NM_001272036.1:c.-112+242T>C	NP_001258965.1:n.-112+242T>C
NM_014665.3:c.-111-558T>C	NP_055480.1:n.-111-558T>C
XM_005272358.3:c.-25-644T>C	XP_005272415.1:n.-25-644T>C
XM_005272359.3:c.-26+242T>C	XP_005272416.1:n.-26+242T>C
XM_005272360.3:c.-9-777T>C	XP_005272417.1:n.-9-777T>C
XM_005272361.2:c.-375-644T>C	XP_005272418.1:n.-375-644T>C
XM_011517387.1:c.-552-117T>C	XP_011515689.1:n.-552-117T>C
XM_011517388.1:c.-10+242T>C	XP_011515690.1:n.-10+242T>C
XR_928369.1:n.121+242T>C
XR_928370.1:n.121+242T>C
XR_928371.1:n.121+242T>C
XM_005272358.5:c.-25-644T>C	XP_005272415.1:n.-25-644T>C
XM_005272359.5:c.-26+242T>C	XP_005272416.1:n.-26+242T>C
XM_005272360.5:c.-9-777T>C	XP_005272417.1:n.-9-777T>C
XM_017014005.2:c.-10+242T>C	XP_016869494.1:n.-10+242T>C
XM_024447336.1:c.-112+242T>C	XP_024303104.1:n.-112+242T>C
XM_024447337.1:c.-10+242T>C	XP_024303105.1:n.-10+242T>C
XM_024447338.1:c.-461-558T>C	XP_024303106.1:n.-461-558T>C
XM_024447339.1:c.-375-644T>C	XP_024303107.1:n.-375-644T>C
XM_024447340.1:c.-243+242T>C	XP_024303108.1:n.-243+242T>C
XM_024447341.1:c.-242-777T>C	XP_024303109.1:n.-242-777T>C
NM_014665.4:c.-111-558T>C MANE Select	NP_055480.1:n.-111-558T>C
NM_001272036.2:c.-112+242T>C	NP_001258965.1:n.-112+242T>C