Canonical Allele Identifier: CA13829612
Gene: LHFPL6 HGNC NCBI
COSMIC:
COSN6624291 (not active)
MyVariant.info:
GRCh38 chr13:g.39543931C>A
GRCh37 chr13:g.40118068C>A
gnomAD v2:
13:40118068 C / A
gnomAD v3:
13:39543931 C / A
gnomAD v4:
chr13-39543931-C-A
Joint Max Group AF 0.43717512 (NFE)
Genomes Max Group AF 0.43717512 (NFE)
dbSNP:
9315702
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.39543931C>A , CM000675.2:g.39543931C>A GRCh38
NC_000013.10:g.40118068C>A , CM000675.1:g.40118068C>A GRCh37
NC_000013.9:g.39016068C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000379589.4:c.385+56901G>T MANE Select ENSP00000368908.3:n.385+56901G>T
ENST00000648377.1:c.385+56901G>T ENSP00000496801.1:n.385+56901G>T
ENST00000379589.3:c.385+56901G>T ENSP00000368908.3:n.385+56901G>T
NM_005780.2:c.385+56901G>T NP_005771.1:n.385+56901G>T
XM_011534861.1:c.385+56901G>T XP_011533163.1:n.385+56901G>T
NM_005780.3:c.385+56901G>T MANE Select NP_005771.1:n.385+56901G>T
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