Canonical Allele Identifier: CA621206601

Gene: ABCC6

Linked Data

• dbSNP Id: rs1379225071
• gnomAD v2: 16-16257076-G-A
• gnomAD v4: 16-16163219-G-A
• MyVariant Identifiers: chr16:g.16257076G>A (hg19) ; chr16:g.16163219G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163219G>A , CM000678.2:g.16163219G>A	GRCh38
NC_000016.9:g.16257076G>A , CM000678.1:g.16257076G>A	GRCh37
NC_000016.8:g.16164577G>A	NCBI36
NG_007558.2:g.65253C>T
NG_007558.3:g.65399C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3307-27C>T	ENSP00000483331.2:n.3307-27C>T
ENST00000205557.12:c.3307-27C>T MANE Select	ENSP00000205557.7:n.3307-27C>T
ENST00000640696.1:c.321-1655C>T	ENSP00000492197.1:n.321-1655C>T
ENST00000205557.11:c.3307-27C>T	ENSP00000205557.7:n.3307-27C>T
ENST00000456970.6:c.3132-1655C>T	ENSP00000405002.2:n.3132-1655C>T
ENST00000622290.4:c.*516-27C>T	ENSP00000483331.1:n.*516-27C>T
NM_001171.5:c.3307-27C>T	NP_001162.4:n.3307-27C>T
XM_011522479.1:c.3274-27C>T	XP_011520781.1:n.3274-27C>T
XM_011522480.1:c.2965-27C>T	XP_011520782.1:n.2965-27C>T
XM_011522481.1:c.2965-27C>T	XP_011520783.1:n.2965-27C>T
XR_932836.1:n.3542-27C>T
XR_932837.1:n.3543-1655C>T
XR_932838.1:n.3543-1655C>T
XR_933133.1:n.407+376G>A
XR_933134.1:n.754+376G>A
NM_001351800.1:c.2965-27C>T	NP_001338729.1:n.2965-27C>T
NR_147784.1:n.3169-1655C>T
XM_011522479.2:c.3274-27C>T	XP_011520781.1:n.3274-27C>T
XM_011522481.3:c.2965-27C>T	XP_011520783.1:n.2965-27C>T
XM_017023212.1:c.3139-27C>T	XP_016878701.1:n.3139-27C>T
XM_017023214.1:c.3307-1655C>T	XP_016878703.1:n.3307-1655C>T
XM_024450261.1:c.3343-27C>T	XP_024306029.1:n.3343-27C>T
XR_932836.2:n.3488-27C>T
XR_932837.3:n.3488-1655C>T
XR_932838.3:n.3488-1655C>T
NM_001171.6:c.3307-27C>T MANE Select	NP_001162.5:n.3307-27C>T