Canonical Allele Identifier: CA278641344

Gene: ABCC6

Linked Data

• dbSNP Id: rs943238648
• gnomAD v3: 16-16173277-T-C
• gnomAD v4: 16-16173277-T-C
• MyVariant Identifiers: chr16:g.16267134T>C (hg19) ; chr16:g.16173277T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16173277T>C , CM000678.2:g.16173277T>C	GRCh38
NC_000016.9:g.16267134T>C , CM000678.1:g.16267134T>C	GRCh37
NC_000016.8:g.16174635T>C	NCBI36
NG_007558.2:g.55195A>G
NG_007558.3:g.55341A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2787+7A>G	ENSP00000483331.2:n.2787+7A>G
ENST00000205557.12:c.2787+7A>G MANE Select	ENSP00000205557.7:n.2787+7A>G
ENST00000205557.11:c.2787+7A>G	ENSP00000205557.7:n.2787+7A>G
ENST00000456970.6:c.2612+7A>G	ENSP00000405002.2:n.2612+7A>G
ENST00000576683.1:n.281A>G
ENST00000622290.4:c.2612+7A>G	ENSP00000483331.1:n.2612+7A>G
NM_001171.5:c.2787+7A>G	NP_001162.4:n.2787+7A>G
XM_011522479.1:c.2754+7A>G	XP_011520781.1:n.2754+7A>G
XM_011522480.1:c.2445+7A>G	XP_011520782.1:n.2445+7A>G
XM_011522481.1:c.2445+7A>G	XP_011520783.1:n.2445+7A>G
XR_932836.1:n.3022+7A>G
XR_932837.1:n.3023+7A>G
XR_932838.1:n.3023+7A>G
NM_001351800.1:c.2445+7A>G	NP_001338729.1:n.2445+7A>G
NR_147784.1:n.2649+7A>G
XM_011522479.2:c.2754+7A>G	XP_011520781.1:n.2754+7A>G
XM_011522481.3:c.2445+7A>G	XP_011520783.1:n.2445+7A>G
XM_017023212.1:c.2619+7A>G	XP_016878701.1:n.2619+7A>G
XM_017023214.1:c.2787+7A>G	XP_016878703.1:n.2787+7A>G
XM_024450261.1:c.2823+7A>G	XP_024306029.1:n.2823+7A>G
XR_932836.2:n.2968+7A>G
XR_932837.3:n.2968+7A>G
XR_932838.3:n.2968+7A>G
NM_001171.6:c.2787+7A>G MANE Select	NP_001162.5:n.2787+7A>G