Canonical Allele Identifier: CA7926436

Gene: ABCC6

Linked Data

• dbSNP Id: rs776518837
• ExAC: 16:16295832 A / G
• gnomAD v2: 16-16295832-A-G
• gnomAD v3: 16-16201975-A-G
• gnomAD v4: 16-16201975-A-G
• MyVariant Identifiers: chr16:g.16295832A>G (hg19) ; chr16:g.16201975A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16201975A>G , CM000678.2:g.16201975A>G	GRCh38
NC_000016.9:g.16295832A>G , CM000678.1:g.16295832A>G	GRCh37
NC_000016.8:g.16203333A>G	NCBI36
NG_007558.2:g.26497T>C
NG_007558.3:g.26643T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574094.6:c.1176+26T>C	ENSP00000507301.1:n.1176+26T>C
ENST00000622290.5:c.1176+26T>C	ENSP00000483331.2:n.1176+26T>C
ENST00000205557.12:c.1176+26T>C MANE Select	ENSP00000205557.7:n.1176+26T>C
ENST00000205557.11:c.1176+26T>C	ENSP00000205557.7:n.1176+26T>C
ENST00000456970.6:c.1176+26T>C	ENSP00000405002.2:n.1176+26T>C
ENST00000574094.5:n.1272+26T>C
ENST00000622290.4:c.1176+26T>C	ENSP00000483331.1:n.1176+26T>C
NM_001171.5:c.1176+26T>C	NP_001162.4:n.1176+26T>C
XM_011522479.1:c.1176+26T>C	XP_011520781.1:n.1176+26T>C
XM_011522480.1:c.834+26T>C	XP_011520782.1:n.834+26T>C
XM_011522481.1:c.834+26T>C	XP_011520783.1:n.834+26T>C
XM_011522482.1:c.1176+26T>C	XP_011520784.1:n.1176+26T>C
XR_932836.1:n.1411+26T>C
XR_932837.1:n.1412+26T>C
XR_932838.1:n.1412+26T>C
NM_001351800.1:c.834+26T>C	NP_001338729.1:n.834+26T>C
NR_147784.1:n.1213+26T>C
XM_011522479.2:c.1176+26T>C	XP_011520781.1:n.1176+26T>C
XM_011522481.3:c.834+26T>C	XP_011520783.1:n.834+26T>C
XM_011522482.3:c.1176+26T>C	XP_011520784.1:n.1176+26T>C
XM_017023212.1:c.1176+26T>C	XP_016878701.1:n.1176+26T>C
XM_017023214.1:c.1176+26T>C	XP_016878703.1:n.1176+26T>C
XM_024450261.1:c.1212+26T>C	XP_024306029.1:n.1212+26T>C
XR_932836.2:n.1357+26T>C
XR_932837.3:n.1357+26T>C
XR_932838.3:n.1357+26T>C
NM_001171.6:c.1176+26T>C MANE Select	NP_001162.5:n.1176+26T>C