Canonical Allele Identifier: CA10644674

Gene: HLCS

Linked Data

• ClinVar Variation Id: 339930
• ClinVar RCV Id: RCV000320116
• dbSNP Id: rs151042283
• gnomAD v2: 21-38124691-A-G
• gnomAD v3: 21-36752390-A-G
• gnomAD v4: 21-36752390-A-G
• MyVariant Identifiers: chr21:g.38124691A>G (hg19) ; chr21:g.36752390A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.36752390A>G , CM000683.2:g.36752390A>G	GRCh38
NC_000021.8:g.38124691A>G , CM000683.1:g.38124691A>G	GRCh37
NC_000021.7:g.37046561A>G	NCBI36
NG_016193.1:g.242846T>C
NG_016193.2:g.243005T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674895.3:c.*1856T>C MANE Select	ENSP00000502087.2:n.*1856T>C
ENST00000674895.2:c.*1856T>C	ENSP00000502087.1:n.*1856T>C
ENST00000675057.1:c.*2447T>C	ENSP00000501832.1:n.*2447T>C
ENST00000675307.1:c.*1856T>C	ENSP00000501750.1:n.*1856T>C
ENST00000336648.8:c.*1856T>C	ENSP00000338387.3:n.*1856T>C
ENST00000399120.5:c.*1856T>C	ENSP00000382071.1:n.*1856T>C
ENST00000612277.4:c.*1856T>C	ENSP00000479939.1:n.*1856T>C
NM_000411.6:c.*1856T>C	NP_000402.3:n.*1856T>C
NM_001242784.1:c.*1856T>C	NP_001229713.1:n.*1856T>C
NM_001242785.1:c.*1856T>C	NP_001229714.1:n.*1856T>C
XM_005260953.2:c.*1856T>C	XP_005261010.1:n.*1856T>C
XM_005260955.2:c.*1856T>C	XP_005261012.1:n.*1856T>C
XM_005260956.2:c.*1856T>C	XP_005261013.1:n.*1856T>C
XM_006723994.1:c.*1856T>C	XP_006724057.1:n.*1856T>C
XM_006723995.1:c.*1856T>C	XP_006724058.1:n.*1856T>C
XM_011529538.1:c.*1856T>C	XP_011527840.1:n.*1856T>C
XM_011529539.1:c.*1856T>C	XP_011527841.1:n.*1856T>C
XM_011529541.1:c.*1856T>C	XP_011527843.1:n.*1856T>C
NM_000411.7:c.*1856T>C	NP_000402.3:n.*1856T>C
NM_001242784.2:c.*1856T>C	NP_001229713.1:n.*1856T>C
NM_001242785.2:c.*1856T>C	NP_001229714.1:n.*1856T>C
NM_001352514.1:c.*1856T>C	NP_001339443.1:n.*1856T>C
NM_001352515.1:c.*1856T>C	NP_001339444.1:n.*1856T>C
NM_001352516.1:c.*1856T>C	NP_001339445.1:n.*1856T>C
NM_001352517.1:c.*1856T>C	NP_001339446.1:n.*1856T>C
NM_001352518.1:c.*1856T>C	NP_001339447.1:n.*1856T>C
NR_148020.1:n.4745T>C
NR_148021.1:n.4719T>C
XM_011529539.3:c.*1856T>C	XP_011527841.1:n.*1856T>C
XM_017028330.1:c.*1856T>C	XP_016883819.1:n.*1856T>C
XM_024452065.1:c.*1856T>C	XP_024307833.1:n.*1856T>C
XM_024452066.1:c.*1856T>C	XP_024307834.1:n.*1856T>C
XR_001754835.1:n.4704T>C
XR_001754836.1:n.4318T>C
NM_000411.8:c.*1856T>C	NP_000402.3:n.*1856T>C
NM_001242784.3:c.*1856T>C	NP_001229713.1:n.*1856T>C
NM_001352514.2:c.*1856T>C MANE Select	NP_001339443.1:n.*1856T>C
NM_001352515.2:c.*1856T>C	NP_001339444.1:n.*1856T>C
NM_001352516.2:c.*1856T>C	NP_001339445.1:n.*1856T>C
NR_148020.2:n.4562T>C
NM_001352518.2:c.*1856T>C	NP_001339447.1:n.*1856T>C