Canonical Allele Identifier: CA621197437

Gene: ABCC6

Linked Data

• dbSNP Id: rs576774194
• gnomAD v2: 16-16244660-G-C
• gnomAD v4: 16-16150803-G-C
• MyVariant Identifiers: chr16:g.16244660G>C (hg19) ; chr16:g.16150803G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150803G>C , CM000678.2:g.16150803G>C	GRCh38
NC_000016.9:g.16244660G>C , CM000678.1:g.16244660G>C	GRCh37
NC_000016.8:g.16152161G>C	NCBI36
NG_007558.2:g.77669C>G
NG_007558.3:g.77815C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*381-31C>G	ENSP00000483331.2:n.*381-31C>G
ENST00000205557.12:c.4209-31C>G MANE Select	ENSP00000205557.7:n.4209-31C>G
ENST00000640696.1:c.1023-31C>G	ENSP00000492197.1:n.1023-31C>G
ENST00000205557.11:c.4209-31C>G	ENSP00000205557.7:n.4209-31C>G
ENST00000456970.6:c.3834-31C>G	ENSP00000405002.2:n.3834-31C>G
ENST00000576204.5:n.1072-31C>G
ENST00000622290.4:c.*1418-31C>G	ENSP00000483331.1:n.*1418-31C>G
NM_001171.5:c.4209-31C>G	NP_001162.4:n.4209-31C>G
XM_011522479.1:c.4176-31C>G	XP_011520781.1:n.4176-31C>G
XM_011522480.1:c.3867-31C>G	XP_011520782.1:n.3867-31C>G
XM_011522481.1:c.3867-31C>G	XP_011520783.1:n.3867-31C>G
XR_933134.1:n.538+6513G>C
NM_001351800.1:c.3867-31C>G	NP_001338729.1:n.3867-31C>G
NR_147784.1:n.3871-31C>G
XM_011522479.2:c.4176-31C>G	XP_011520781.1:n.4176-31C>G
XM_011522481.3:c.3867-31C>G	XP_011520783.1:n.3867-31C>G
XM_017023212.1:c.4041-31C>G	XP_016878701.1:n.4041-31C>G
XM_024450261.1:c.4245-31C>G	XP_024306029.1:n.4245-31C>G
NM_001171.6:c.4209-31C>G MANE Select	NP_001162.5:n.4209-31C>G