Canonical Allele Identifier: CA2658995156
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI

Linked Data

gnomAD v4: 2-48755728-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48755728G>T , CM000664.2:g.48755728G>T GRCh38
NC_000002.11:g.48982867G>T , CM000664.1:g.48982867G>T GRCh37
NC_000002.10:g.48836371G>T NCBI36
NG_008193.1:g.5014C>A
NG_033050.1:g.230804G>T
NG_008193.2:g.5014C>A
NG_033050.2:g.230804G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000401907.5:c.-57C>A (LHCGR) ENSP00000385406.1:n.-57C>A
ENST00000402114.6:c.3442-20552G>T (STON1-GTF2A1L) ENSP00000385701.1:n.3442-20552G>T
ENST00000403273.5:c.-57C>A (LHCGR) ENSP00000385847.1:n.-57C>A
NM_000233.3:c.-57C>A (LHCGR) NP_000224.2:n.-57C>A
NM_001198593.1:c.3442-20552G>T (STON1-GTF2A1L) NP_001185522.1:n.3442-20552G>T
NM_001198593.2:c.3442-20552G>T (STON1-GTF2A1L) NP_001185522.1:n.3442-20552G>T
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